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  • 1.
    Andersson, Anneli
    et al.
    Örebro University, School of Medical Sciences.
    Tuvblad, Catherine
    Örebro University, School of Law, Psychology and Social Work. University of Southern California, Department of Psychology, Los Angeles CA, USA.
    Kuja-Halkola, Ralf
    Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
    Chen, Qi
    Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
    Larsson, Henrik
    Örebro University, School of Medical Sciences. Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden.
    Genetic overlap between ADHD and externalizing, internalizing and neurodevelopmental disorder symptoms: a systematic review and meta-analysis2018In: Behavior Genetics, ISSN 0001-8244, E-ISSN 1573-3297, Vol. 48, no 6, p. 455-456Article in journal (Other academic)
    Abstract [en]

    Attention-Deficit/Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder (Wilens, Biederman & Spencer 2002) and affects approximately 5% of children (Polanczyk, de Lima, Horta, Biederman & Rohde 2007). About half of those diagnosed in childhood continue to have the diagnosis and symptoms in adulthood (Kessler et al. 2006). The co-occurrence of ADHD with other psychiatric disorder symptoms (Burt et al. 2001; Cole et al. 2009; Polderman et al. 2014) has been suggested to be partly explained by a shared genetic vulnerability (Polderman et al. 2014). However, the strength of the genetic overlap is currently unclear. Also, no study has examined whether the genetic correlations differs between age groups (childhood versus adulthood), by rater (self-report, other informant, combined (parent-teacher, parent-twin, teacher-twin)), or by type of psychiatric disorder symptoms (externalizing, internalizing, neu-rodevelopmental). To address this gap, we conducted a systematic literature search to identify relevant twin studies, in PubMed, PsycINFO, and EMBASE. A total of 31 articles were identified and included in the present study. The pooled estimates showed that the comorbidity between ADHD and diverse psychiatric disorder symptoms were explained by shared genetic effectsrg= 0.50 (0.43–0.56). A similar shared genetic overlap between ADHD and psychiatric disorder symptoms was observed in both childhood rg= 0.51(0.42–0.61) and adulthood rg= 0.47 (0.40–0.53). Similar results werealso found for self-reports rg= 0.49 (0.42–0.55), other informants rg= 0.50 (0.40–0.60), and combined raters rg= 0.51 (0.30–0.69). Further, the strength of the genetic correlations of ADHD with the externalizing rg= 0.49 (0.39–0.59), internalizing rg= 0.55 (0.40–0.68) and neurodevelopmental rg= 0.47 (0.40–0.53) spectrums were similar in magnitude. These findings emphasize the presence of a shared genetic liability between ADHD and externalizing, internalizing and neurodevelopmental disorder symptoms, independent of age and rater.

    References

    Burt, S. A., Krueger, R. F., McGue, M., Iacono, W. G. (2001).Sources of covariation among attention-deficit/hyperactivity disorder,oppositional defiant disorder, and conduct disorder: the importance ofshared environment.Journal of Abnormal Psychology, 4, 516–525.

    Cole, J., Ball, H. A., Martin, N. C., Scourfield, J., McGuffin, P.(2009). Genetic overlap between measures of hyperactivity/inatten-tion and mood in children and adolescents.J Am Acad Child AdolescPsychiatry48, 1094–1101.

    Kessler, R. C., Adler, L., Barkley, R., Biederman, J., Conners, C.K., Demler, O., Faraone, S. V., Greenhill, L. L., Howes, M. J., Secnik,K., Spencer, T., Ustun, T. B., Walters, E. E., Zaslavsky, A. M. (2006).The prevalence and correlates of adult ADHD in the United States:results from the National Comorbidity Survey Replication.Am JPsychiatry, 163, 716–723.

    Polanczyk, G., de Lima, M. S., Horta, B. L., Biederman, J., Rohde,L. A. (2007). The worldwide prevalence of ADHD: a systematicreview and metaregression analysis.Am J Psychiatry, 164, 942-8.

    Polderman, T. J., Hoekstra, R. A., Posthuma, D., Larsson, H.(2014). The co-occurrence of autistic and ADHD dimensions inadults: an etiological study in 17,770 twins.Transl Psychiatry2014;4: e435.

    Wilens, T. E., Biederman, J., Spencer, T. J. (2002). Attentiondeficit/hyperactivity disorder across the lifespan.Annual Review Med53:113–131.

  • 2.
    Asherson, Philip
    et al.
    MRC SGDP Centre, Institute of Psychiatry Psychology and Neuroscience, King’s College London, London, United Kingdom.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Family, twin, and adoption studies of childhood onset psychiatric and neurodevelopmental disorders2016In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 171, no 7, p. 923-924Article in journal (Refereed)
  • 3.
    Baker, Laura
    et al.
    Department of Psychology (SGM 501), University of Southern California, Los Angeles, United States.
    Tuvblad, Catherine
    Department of Psychology (SGM 501), University of Southern California, Los Angeles, United States.
    Wang, Pan
    Department of Psychology (SGM 501), University of Southern California, Los Angeles, United States.
    Gomez, Karina
    Department of Psychology (SGM 501), University of Southern California, Los Angeles, United States.
    Bezdjian, Serena
    Department of Psychology (SGM 501), University of Southern California, Los Angeles, United States.
    Niv, Sharon
    Department of Psychology (SGM 501), University of Southern California, Los Angeles, United States.
    Raine, Adrian
    Departments of Criminology and Psychiatry, University of Pennsylvania, Philadelphia PA, United States .
    The southern california twin register at the University of Southern California: III2013In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 16, no 1, p. 336-343Article in journal (Refereed)
  • 4.
    Brikell, Isabell
    et al.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Kuja-Halkola, Ralf
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Heritability of attention-deficit hyperactivity disorder in adults2015In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 168, no 6, p. 406-413Article, review/survey (Refereed)
    Abstract [en]

    Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder. Symptoms often persist into adulthood, with a prevalence of 2.5-5% in adult populations. Twin studies in childhood consistently report high heritabilities of 70-80%, while studies in adult samples show only moderate heritability of 30-40% when estimated from self-ratings. This review summarizes the available research on the heritability of ADHD in adults. Three key findings are outlined: (i) self-ratings lead to relatively low heritability estimates of ADHD, independent of age and whether ratings refer to current or retrospective symptoms; (ii) studies relying on different informants to rate each twin within a pair (i.e., self-ratings and different parents/teachers rating each twin in a pair) consistently yield lower heritability estimates than studies relying on ratings from a single informant; (iii) studies using cross-informant data via either combined parent and self-ratings or clinical diagnoses information suggest that the heritability of ADHD in adults could be as high as 70-80%. Together, the reviewed studies suggest that the previously reported low heritability of ADHD in adults is unlikely to reflect a true developmental change. Instead, the drop in heritability is better explained by rater effects related to a switch from using one rater for both twins in a pair (parent/teacher) in childhood, to relying on self-ratings (where each twin rates themselves) of ADHD symptoms in adulthood. When rater effects are addressed using cross-informant approaches, the heritability of ADHD in adults appears to be comparable to the heritability of ADHD in childhood.

  • 5.
    Burt, S. Alexandra
    et al.
    Department of Psychology, Michigan State University, East Lansing, United States .
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Lichtenstein, Paul
    Department of Medical Epidemiology, Karolinska Institutet, Stockholm, Sweden.
    Klump, Kelly L
    Department of Psychology, Michigan State University, East Lansing, United States.
    Additional evidence against shared environmental contributions to attention-deficit/hyperactivity problems2012In: Behavior Genetics, ISSN 0001-8244, E-ISSN 1573-3297, Vol. 42, no 5, p. 711-721Article in journal (Refereed)
    Abstract [en]

    A recent meta-analysis "Burt (Psychol Bull 135:608-637, 2009)" indicated that shared environmental influences (C) do not contribute to Attention-Deficit/Hyperactivity Disorder (ADHD). Unfortunately, the meta-analysis relied almost exclusively on classical twin studies. Although useful in many ways, some of the assumptions of the classical twin model (e.g., dominant genetic and shared environmental influences do not simultaneously influence the phenotype) can artifactually decrease estimates of C. There is thus a need to confirm that dominant genetic influences are not suppressing estimates of C on ADHD. The current study sought to do just this via the use of a nuclear twin family model, which allows researchers to simultaneously model and estimate dominant genetic and shared environmental influences. We examined two independent samples of child twins: 312 pairs from the Michigan State University Twin Registry and 854 pairs from the PrE School Twin Study in Sweden. Shared environmental influences were found to be statistically indistinguishable from zero and to account for less than 5 % of the variance. We conclude that the presence of dominant genetic influences does not account for the absence of C on ADHD.

  • 6.
    Cederlöf, Martin
    et al.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Pettersson, Erik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Sariaslan, Amir
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Östberg, Per
    Division of Speech and Language Pathology, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden; Department of Speech and Language Pathology, Karolinska University Hospital, Stockholm, Sweden.
    Kelleher, Ian
    Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland.
    Långström, Niklas
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; R&D unit, Swedish Prison and Probation Service, Stockholm, Sweden.
    Gumpert, Clara Hellner
    Centre for Psychiatry Research & Education, Department of Clinical Neuroscience, Karolinska Institutet & Stockholm County Council, Stockholm, Sweden.
    Lundström, Sebastian
    Centre for Ethics, Law and Mental Health (CELAM), University of Gothenburg, Gothenburg, Sweden; Gillberg Neuropsychiatry Centre, University of Gothenburg, Gothenburg, Sweden.
    Lichtenstein, Paul
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    The association between childhood autistic traits and adolescent psychotic experiences is explained by general neuropsychiatric problems.2016In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 171, no 2, p. 153-159Article in journal (Refereed)
    Abstract [en]

    Studies suggest associations between childhood autistic traits and adolescent psychotic experiences. However, recent research suggests that a general neuropsychiatric problems factor predicts adverse outcomes better than specific diagnostic entities. To examine if the alleged association between autistic traits and psychotic experiences could rather be explained by a general neuropsychiatric problems factor comprising symptoms of ADHD, tic disorder, developmental coordination disorder, and learning disorder, we conducted a prospective cohort study based on the Child and Adolescent Twin Study in Sweden. In addition, we examined the genetic and environmental influences on the associations. A total of 9,282 twins with data on childhood autistic traits and other neuropsychiatric problems, and follow-up data on psychotic experiences at ages 15 and/or 18 years were included. First, psychotic experiences were regressed on autistic traits and second, the general neuropsychiatric problems factor was added to the model. Auditory hallucinations were analyzed separately from the other psychotic experiences. Finally, twin analyses were employed to disentangle genetic from environmental influences in the observed associations. Replicating prior research, significant associations were found between autistic traits in childhood and auditory hallucinations at ages 15 and 18. However, after controlling for the general neuropsychiatric problems factor, the associations between autistic traits and auditory hallucinations disappeared, whereas the association between the general neuropsychiatric problems factor and auditory hallucinations persisted after controlling for autistic traits. Twin analyses revealed that the association between the general neuropsychiatric problems factor and auditory hallucinations was driven by shared genetic influences. .

  • 7.
    Chaillou, Thomas
    et al.
    Operational environments, IRBA La Tronche, La Tronche, France.
    Malgoyre, A.
    Operational environments, IRBA La Tronche, La Tronche, France.
    Banzet, S.
    Operational environments, IRBA La Tronche, La Tronche, France.
    Chapot, R.
    Operational environments, IRBA La Tronche, La Tronche, France.
    Koulmann, N.
    Operational environments, IRBA La Tronche, La Tronche, France.
    Pugnière, P.
    Genomic Core Facility, IRBA La Tronche, La Tronche, France.
    Beaudry, M.
    Laboratoire Réponses Cellulaires et Fonctionnelles À l'Hypoxie, Université Paris, Bobigny, France.
    Bigard, X.
    Operational environments, IRBA La Tronche, La Tronche, France.
    Peinnequin, A.
    Genomic Core Facility, IRBA La Tronche, La Tronche, France.
    Pitfalls in target mRNA quantification for real-time quantitative RT-PCR in overload-induced skeletal muscle hypertrophy2011In: Physiological Genomics, ISSN 1094-8341, E-ISSN 1531-2267, Vol. 43, no 4, p. 228-235Article in journal (Refereed)
    Abstract [en]

    Quantifying target mRNA using real-time quantitative reverse transcription-polymerase chain reaction requires an accurate normalization method. Determination of normalization factors (NFs) based on validated reference genes according to their relative stability is currently the best standard method in most usual situations. This method controls for technical errors, but its physiological relevance requires constant NF values for a fixed weight of tissue. In the functional overload model, the increase in the total RNA concentration must be considered in determining the NF values. Here, we pointed out a limitation of the classical geNorm-derived normalization. geNorm software selected reference genes despite that the NF values extensively varied under experiment. Only the NF values calculated from four intentionally selected genes were constant between groups. However, a normalization based on these genes is questionable. Indeed, three out of four genes belong to the same functional class (negative regulator of muscle mass), and their use is physiological nonsense in a hypertrophic model. Thus, we proposed guidelines for optimizing target mRNA normalization and quantification, useful in models of muscle mass modulation. In our study, the normalization method by multiple reference genes was not appropriate to compare target mRNA levels between overloaded and control muscles. A solution should be to use an absolute quantification of target mRNAs per unit weight of tissue, without any internal normalization. Even if the technical variations will stay present as a part of the intergroup variations, leading to less statistical power, we consider this method acceptable because it will not generate misleading results.

  • 8.
    Chen, Tian-Jiao
    et al.
    Institute of Child and Adolescent Health, School of Public Health, Health Science Center, Peking University, Beijing, China.
    Ji, Cheng-Ye
    Institute of Child and Adolescent Health, School of Public Health, Health Science Center, Peking University, Beijing, China.
    Wang, Shang-Shang
    Institute of Child and Adolescent Health, School of Public Health, Health Science Center, Peking University, Beijing, China.
    Lichtenstein, Paul
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Chang, Zheng
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Genetic and environmental influences on the relationship between ADHD symptoms and internalizing problems: A Chinese twin study2016In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 171, no 7, p. 931-937Article in journal (Refereed)
    Abstract [en]

    Several twin studies have investigated the overlap between attention deficit hyperactivity disorder (ADHD) and externalizing problems; however, limited information is known regarding the genetic and environmental contribution to the overlap between ADHD and internalizing problems. This study examined the genetic and environmental influences on the variation in and covariation between ADHD symptoms and internalizing problems by using the Child Behavior Checklist (CBCL). We investigated 1,316 child and adolescent twins, including 780 monozygotic twins and 536 dizygotic twins, aged 6 years to 18 years from the Chinese Child and Adolescent Twin Registry. ADHD symptoms and internalizing problems were quantified through parent rating by using the Attention Problems Scale and other three scales, which include Anxious/Depressed, Withdrawn, and Somatic Complaints of CBCL. Genetic and environmental susceptibilities common to ADHD symptoms and internalizing problems were examined through bivariate twin modeling. Results showed that genetic factors substantially influenced the ADHD symptoms with a heritability of 72%. Modest genetic influences and substantial shared environmental influences (20-77%) were observed in the three internalizing problem scales. Common genetic and shared environmental influences were essential for the overlap between ADHD and the three internalizing problems respectively. Approximately one-fifth of the genetic variance of ADHD symptoms was shared with anxiety/depression. In conclusion, substantial genetic and shared environmental influences on ADHD symptoms and internalizing problems were observed in Chinese children and adolescents. Our finding supports a common etiology between ADHD and internalizing problems. This finding can also help explain the co-existence of these behavior problems. © 2015 Wiley Periodicals, Inc.

  • 9.
    Demczuk, Walter H.B.
    et al.
    National Microbiology Laboratory, Winnipeg, Canada.
    Sidhu, S.
    National Microbiology Laboratory, Winnipeg, Canada.
    Unemo, Magnus
    WHO Collaborating Centre for Gonorrhoea and Other STIs, Örebro University Hospital, Örebro, Sweden; School of Medical Sciences, Örebro University, Örebro, Sweden.
    Whiley, David M.
    Centre for Clinical Research, The University of Queensland, Brisbane, Australia.
    Allen, Vanessa G.
    Public Health Ontario Laboratories, Toronto , Canada.
    Dillon, Jeremiah R.
    Department of Microbiology and Immunology, University of Saskatchewan, Saskatoon, Canada.
    Cole, Michelle J.
    Public Health England, London, United Kingdom.
    Seah, Christine
    Public Health Ontario Laboratories, Toronto, Canada.
    Trembizki, Ella
    Centre for Clinical Research, The University of Queensland, Brisbane, Australia.
    Trees, David L.
    Centers for Disease Control and Prevention, Atlanta GA, United States.
    Kersh, Ellen N.
    Centers for Disease Control and Prevention, Atlanta GA, United States.
    Abrams, A. Jeanine
    Centers for Disease Control and Prevention, Atlanta GA, United States.
    de Vries, Henry J.C.
    STI Outpatient Clinic, Department of Infectious Diseases, Public Health Service Amsterdam, Amsterdam, the Netherlands; Department of Dermatology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands; Center for Infection and Immunity Amsterdam, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
    van Dam, Alje P.
    Public Health Laboratory, Public Health Service Amsterdam, Amsterdam, the Netherlands; Department of Medical Microbiology, OLVG General Hospital, Amsterdam, the Netherlands; .
    Medina, I.
    National Microbiology Laboratory, Public Health Agency of Canada, Winnipeg MB, Canada.
    Bharat, Amrita
    National Microbiology Laboratory, Public Health Agency of Canada, Winnipeg MB, Canada.
    Mulvey, Michael Richard
    National Microbiology Laboratory, Public Health Agency of Canada, Winnipeg MB, Canada.
    Van Domselaar, Gary
    National Microbiology Laboratory, Public Health Agency of Canada, Winnipeg MB, Canada.
    Martin, Irene E.
    National Microbiology Laboratory, Public Health Agency of Canada, Winnipeg MB, Canada.
    Neisseria gonorrhoeae Sequence Typing for Antimicrobial Resistance: a Novel Antimicrobial Resistance Multilocus Typing Scheme for Tracking Global Dissemination of N. gonorrhoeae Strains2017In: Journal of Clinical Microbiology, ISSN 0095-1137, E-ISSN 1098-660X, Vol. 55, no 5, p. 1454-1468Article in journal (Refereed)
    Abstract [en]

    A curated Web-based user-friendly sequence typing tool based on antimicrobial resistance determinants in Neisseria gonorrhoeae was developed and is publicly accessible (https://ngstar.canada.ca). The N. gonorrhoeae Sequence Typing for Antimicrobial Resistance (NG-STAR) molecular typing scheme uses the DNA sequences of 7 genes (penA, mtrR, porB, ponA, gyrA, parC, and 23S rRNA) associated with resistance to β-lactam antimicrobials, macrolides, or fluoroquinolones. NG-STAR uses the entire penA sequence, combining the historical nomenclature for penA types I to XXXVIII with novel nucleotide sequence designations; the full mtrR sequence and a portion of its promoter region; portions of ponA, porB, gyrA, and parC; and 23S rRNA sequences. NG-STAR grouped 768 isolates into 139 sequence types (STs) (n = 660) consisting of 29 clonal complexes (CCs) having a maximum of a single-locus variation, and 76 NG-STAR STs (n = 109) were identified as unrelated singletons. NG-STAR had a high Simpson's diversity index value of 96.5% (95% confidence interval [CI] = 0.959 to 0.969). The most common STs were NG-STAR ST-90 (n = 100; 13.0%), ST-42 and ST-91 (n = 45; 5.9%), ST-64 (n = 44; 5.72%), and ST-139 (n = 42; 5.5%). Decreased susceptibility to azithromycin was associated with NG-STAR ST-58, ST-61, ST-64, ST-79, ST-91, and ST-139 (n = 156; 92.3%); decreased susceptibility to cephalosporins was associated with NG-STAR ST-90, ST-91, and ST-97 (n = 162; 94.2%); and ciprofloxacin resistance was associated with NG-STAR ST-26, ST-90, ST-91, ST-97, ST-150, and ST-158 (n = 196; 98.0%). All isolates of NG-STAR ST-42, ST-43, ST-63, ST-81, and ST-160 (n = 106) were susceptible to all four antimicrobials. The standardization of nomenclature associated with antimicrobial resistance determinants through an internationally available database will facilitate the monitoring of the global dissemination of antimicrobial-resistant N. gonorrhoeae strains.

  • 10.
    D'Onofrio, Brian M.
    et al.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Class, Quetzal A.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Rickert, Martin E.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Sujan, Ayesha C.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Larsson, Henrik
    Karolinska Institutet, Stockholm, Sweden.
    Kuja-Halkola, Ralf
    Karolinska Institutet, Stockholm, Sweden.
    Sjölander, Arvid
    Karolinska Institutet, Stockholm, Sweden.
    Almqvist, Catarina
    Karolinska Institutet, Stockholm, Sweden.
    Lichtenstein, Paul
    Karolinska Institutet, Stockholm, Sweden.
    Oberg, A. Sara
    Karolinska Institutet, Stockholm, Sweden; Harvard T.H. Chan School of Public Health, Boston, USA.
    Translational Epidemiologic Approaches to Understanding the Consequences of Early-Life Exposures2016In: Behavior Genetics, ISSN 0001-8244, E-ISSN 1573-3297, Vol. 46, no 3, p. 315-328Article, review/survey (Refereed)
    Abstract [en]

    Prominent developmental theories posit a causal link between early-life exposures and later functioning. Yet, observed associations with early exposures may not reflect causal effects because of genetic and environmental confounding. The current manuscript describes how a systematic series of epidemiologic analyses that combine several genetically-informative designs and statistical approaches can help distinguish between competing theories. In particular, the manuscript details how combining the use of measured covariates with sibling-comparisons, cousin-comparisons, and additional designs can help elucidate the sources of covariation between early-life exposures and later outcomes, including the roles of (a) factors that are not shared in families, including a potential causal effect of the exposure; (b) carryover effects from the exposure of one child to the next; and (c) familial confounding. We also describe key assumptions and how they can be critically evaluated. Furthermore, we outline how subsequent analyses, including effect decomposition with respect to measured, plausible mediators, and quantitative genetic models can help further specify the underlying processes that account for the associations between early-life exposures and offspring outcomes.

  • 11.
    Farkas, Sanja A.
    et al.
    Örebro University, School of Health Sciences. Örebro University Hospital. Department of Laboratory Medicine, Örebro University Hospital, Örebro, Sweden.
    Sorbe, Bengt G.
    Örebro University, School of Health Sciences. Örebro University Hospital. Department of Oncology, Örebro University Hospital, Örebro, Sweden.
    Nilsson, Torbjörn K.
    Department of Medical Biosciences/Clinical Chemistry, Umeå University, Umeå, Sweden.
    Epigenetic changes as prognostic predictors in endometrial carcinomas2017In: Epigenetics, ISSN 1559-2294, E-ISSN 1559-2308, Vol. 12, no 1, p. 19-26Article in journal (Refereed)
    Abstract [en]

    Endometrial carcinoma is one of the most frequent gynecological malignancies of the female. The diagnostic and prognostic markers for the high-risk subgroups with unfavorable prognosis are under intense debate worldwide, and, therefore, the aim of this study was to identify new potential DNA methylation markers for the high-risk groups. We used the Illumina Infinium HumanMethylation450 BeadChip to analyze the DNA methylation pattern and investigated its association with clinicopathological features important for defining the high-risk (FIGO-grade 3) and low-risk (FIGO-grade 1) groups of patients with endometrial cancer (n = 31 and n = 39, respectively). We identified specific DNA methylation signature in high-risk endometrial tumors, and potential molecular biomarker genes (TBX2, CHST11, and NID2) associated with unfavorable clinical predictive and prognostic factors.

  • 12.
    Forde, Brian M.
    et al.
    The University of Queensland, Brisbane, Queensland, Australia.
    Zowawi, Hosam M.
    Australian Infectious Diseases Research Centre, The University of Queensland, Brisbane, Queensland, Australia; The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Queensland, Australia; College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia; World Health Organization Collaborating Centre for Infection Prevention and Control, Riyadh, Saudi Arabia; Gulf Cooperation Council Center for Infection Control, Riyadh, Saudi Arabia; King Abdullah International Medical Research Centre, Riyadh, Saudi Arabia.
    Harris, Patrick N. A.
    The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Queensland, Australia; Pathology Queensland, Brisbane, Queensland, Australia.
    Roberts, Leah
    The University of Queensland, Brisbane, Queensland, Australia.
    Ibrahim, Emad
    Microbiology Division, Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, Qatar.
    Shaikh, Nissar
    Department of Neurosurgery, Hamad Medical Corporation, Weill Cornell Medical College in Qatar, Ar-Rayyan, Qatar.
    Deshmukh, Anand
    Microbiology Division, Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, Qatar.
    Ahmed, Mazen Sid
    Örebro University, School of Science and Technology. Microbiology Division, Department of Laboratory Medicine and Pathology, Hamad Medical Corporation, Doha, Qatar.
    Al Maslamani, Muna
    Department of Infectious Diseases, Hamad General Hospital, Doha, Qatar.
    Cottrell, Kyra
    The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Queensland, Australia.
    Trembizki, Ella
    The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Queensland, Australia.
    Sundac, Lana
    The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Queensland, Australia; Pathology Queensland, Brisbane, Queensland, Australia.
    Yu, Heidi H.
    Monash Biomedicine Discovery Institute, Department of Microbiology, Monash University, Victoria, Australia.
    Li, Jian
    Monash Biomedicine Discovery Institute, Department of Microbiology, Monash University, Victoria, Australia.
    Schembri, Mark A.
    The University of Queensland, Brisbane, Queensland, Australia.
    Whiley, David M.
    The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Queensland, Australia; Pathology Queensland, Brisbane, Queensland, Australia.
    Paterson, David L.
    The University of Queensland, UQ Centre for Clinical Research (UQCCR), Herston, Queensland, Australia.
    Beatson, Scott A.
    The University of Queensland, Brisbane, Queensland, Australia.
    Discovery of mcr-1-Mediated Colistin Resistance in a Highly Virulent Escherichia coli Lineage2018In: mSphere, ISSN 2379-5042, Vol. 3, no 5, article id e00486-18Article in journal (Refereed)
    Abstract [en]

    Resistance to last-line polymyxins mediated by the plasmid-borne mobile colistin resistance gene (mcr-1) represents a new threat to global human health. Here we present the complete genome sequence of an mcr-1-positive multidrug-resistant Escherichia coli strain (MS8345). We show that MS8345 belongs to serotype O2:K1:H4, has a large 241,164-bp IncHI2 plasmid that carries 15 other antibiotic resistance genes (including the extended-spectrum β-lactamase blaCTX-M-1) and 3 putative multidrug efflux systems, and contains 14 chromosomally encoded antibiotic resistance genes. MS8345 also carries a large ColV-like virulence plasmid that has been associated with E. coli bacteremia. Whole-genome phylogeny revealed that MS8345 clusters within a discrete clade in the sequence type 95 (ST95) lineage, and MS8345 is very closely related to the highly virulent O45:K1:H4 clone associated with neonatal meningitis. Overall, the acquisition of a plasmid carrying resistance to colistin and multiple other antibiotics in this virulent E. coli lineage is concerning and might herald an era where the empirical treatment of ST95 infections becomes increasingly more difficult.

    Importance: Escherichia coli ST95 is a globally disseminated clone frequently associated with bloodstream infections and neonatal meningitis. However, the ST95 lineage is defined by low levels of drug resistance amongst clinical isolates, which normally provides for uncomplicated treatment options. Here, we provide the first detailed genomic analysis of an E. coli ST95 isolate that has both high virulence potential and resistance to multiple antibiotics. Using the genome, we predicted its virulence and antibiotic resistance mechanisms, which include resistance to last-line antibiotics mediated by the plasmid-borne mcr-1 gene. Finding an ST95 isolate resistant to nearly all antibiotics that also has a high virulence potential is of major clinical importance and underscores the need to monitor new and emerging trends in antibiotic resistance development in this important global lineage.

  • 13.
    Fredlund, Elisabeth
    et al.
    Department of Microbiology, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.
    Beerlage, Christiane
    Department of Microbiology, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.
    Melin, Petter
    Department of Microbiology, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.
    Schnürer, Johan
    Department of Microbiology, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.
    Passoth, Volkmar
    Department of Microbiology, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden.
    Oxygen and carbon source-regulated expression of PDC and ADH genes in the respiratory yeast Pichia anomala2006In: Yeast, ISSN 0749-503X, E-ISSN 1097-0061, Vol. 23, no 16, p. 1137-1149Article in journal (Refereed)
    Abstract [en]

    We amplified, sequenced and studied the transcriptional regulation of genes of the alcoholic fermentation pathway in the biocontrol and non-Saccharomyces wine yeast, Pichia anomala. Two ADH isogenes, PaADH1 and PaADH2, and one PDC gene, PaPDC1, were amplified from genomic P. anomala DNA by a two-step PCR approach, using degenerated primers against conserved regions of the respective genes for cloning core regions, and PCR-based gene walking for cloning the respective 5' and 3'-ends. According to sequence analysis, ADHI and PDC1 are most likely cytoplasmatic proteins, while ADH2 is most probably localized in the mitochondria. PaADH1 was expressed during aerobic growth on glucose, ethanol and succinate, but was ninefold upregulated in response to oxygen limitation when grown on glucose. The gene seems to be involved in both production and consumption of ethanol. Only low expression of PaADH2 was detected during growth on glucose and ethanol, but it was highly expressed during growth on the non-fermentable carbon source succinate and repressed by the addition of glucose. PaPDC1 was expressed during aerobic growth on glucose and was upregulated four-fold in response to oxygen limitation. PaPDC1 expression was lower in cells grown on ethanol and succinate than on glucose and was up- regulated two- and four-fold, respectively, after glucose addition. Our results demonstrate that transcription of genes of the fermentative pathway is regulated by hypoxia and carbon source but posttranscriptional regulation may play a major role in regulating the metabolic flux.

  • 14.
    Gorreja, Frida
    et al.
    Örebro University, School of Medical Sciences.
    Rangel, Ignacio
    Örebro University, School of Medical Sciences.
    Rush, Stephen
    Örebro University, School of Medical Sciences.
    Wall, Rebecca
    Örebro University, School of Medical Sciences.
    De Vos, Willem M.
    Wageningen University & Research Centre, Wageningen, Netherlands; Department of Bacteriology and Immunology, University of Helsinki, Helsinki, Finland.
    Brummer, Robert Jan
    Örebro University, School of Medical Sciences.
    Double-blind cross-over trial reveals human mucosal transcriptome responses to variants of LGG administration in vivo2018In: Targeting microbiota: 6th World congress on targeting microbiota towards clinical revolution / [ed] Peter Konturek, Porto, Portugal: ISM , 2018, Vol. 5, article id 978-2-35609-010-2Conference paper (Other academic)
  • 15.
    Goyette, Philippe
    et al.
    Research Center, Montreal Heart Institute, Montreal QC, Canada.
    Boucher, Gabrielle
    Research Center, Montreal Heart Institute, Montreal QC, Canada.
    Mallon, Dermot
    Department of Surgery, University of Cambridge, Cambridge, UK; National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre, Cambridge, UK.
    Ellinghaus, Eva
    Institute of Clinical Molecular Biology, Christian Albrechts University, Kiel, Germany.
    Jostins, Luke
    Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, UK; Christ Church, University of Oxford, Oxford, UK.
    Huang, Hailiang
    Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston MA, USA; Broad Institute of MIT and Harvard, Cambridge MA, USA.
    Ripke, Stephan
    Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston MA, USA; Broad Institute of MIT and Harvard, Cambridge MA, USA.
    Gusareva, Elena S.
    Systems and Modeling Unit, Montefiore Institute, University of Liege, Liege, Belgium; Bioinformatics and Modeling, GIGA-R (Groupe Interdisciplinaire de Génoprotéomique Appliquée) Research Center, University of Liege, Liege, Belgium.
    Annese, Vito
    Unit of Gastroenterology, IRCCS-CSS (Istituto di Ricovero e Cura a Carattere Scientifico–Casa Sollievo della Sofferenza) Hospital, San Giovanni Rotondo, Italy; Unit of Gastroenterology SOD2 (Strutture Organizzative Dipartimentali), Azienda Ospedaliero Universitaria (AOU) Careggi, Florence, Italy.
    Hauser, Stephen L.
    Department of Neurology, University of California, San Francisco, USA.
    Oksenberg, Jorge R.
    Department of Neurology, University of California,San Francisco, USA.
    Thomsen, Ingo
    Institute of Clinical Molecular Biology, Christian Albrechts University, Kiel, Germany.
    Leslie, Stephen
    Murdoch Children's Research Institute, Parkville Vic, Australia; Department of Mathematics and Statistics, University of Melbourne, Melbourne Vic, Australia.
    Daly, Mark J.
    Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston MA, USA; Broad Institute of MIT and Harvard, Cambridge MA, USA.
    Van Steen, Kristel
    Systems and Modeling Unit, Montefiore Institute, University of Liege, Liege, Belgium; Bioinformatics and Modeling, GIGA-R (Groupe Interdisciplinaire de Génoprotéomique Appliquée) Research Center, University of Liege, Liege, Belgium.
    Duerr, Richard H.
    Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh PA, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh PA, USA.
    Barrett, Jeffrey C.
    Wellcome Trust Sanger Institute, Hinxton, UK.
    McGovern, Dermot P. B.
    Schumm, L. Philip
    Department of Public Health Sciences, University of Chicago, Chicago ILL, USA.
    Traherne, James A.
    Cambridge Institute for Medical Research, Cambridge, UK; Department of Pathology, University of Cambridge, Cambridge, UK.
    Carrington, Mary N.
    Cancer and Inflammation Program, Laboratory of Experimental Immunology, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick MD, USA; Ragon Institute of Massachusetts General Hospital, MIT and Harvard, Cambridge MA, USA.
    Kosmoliaptsis, Vasilis
    Department of Surgery, University of Cambridge, Cambridge, UK; National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre, Cambridge, UK.
    Karlsen, Tom H.
    Research Institute of Internal Medicine, Department of Transplantation Medicine, Division of Cancer, Surgery and Transplantation, Oslo University Hospital (Rikshospitalet), Oslo, Norway; Norwegian Primary Sclerosing Cholangitis Research Center, Department of Transplantation Medicine, Division of Cancer, Surgery and Transplantation, Oslo University Hospital (Rikshospitalet), Oslo, Norway.
    Franke, Andre
    Institute of Clinical Molecular Biology, Christian Albrechts University, Kiel, Germany.
    Rioux, John D.
    Research Center, Montreal Heart Institute, Montreal QC, Canada; Faculté de Médecine, Université de Montréal, Montreal QC, Canada.
    High-density mapping of the MHC identifies a shared role for HLA-DRB1*01: 03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis2015In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 47, no 2, p. 172-179Article in journal (Refereed)
    Abstract [en]

    Genome-wide association studies of the related chronic inflammatory bowel diseases (IBD) known as Crohn's disease and ulcerative colitis have shown strong evidence of association to the major histocompatibility complex (MHC). This region encodes a large number of immunological candidates, including the antigen-presenting classical human leukocyte antigen (HLA) molecules. Studies in IBD have indicated that multiple independent associations exist at HLA and non-HLA genes, but they have lacked the statistical power to define the architecture of association and causal alleles. To address this, we performed high-density SNP typing of the MHC in >32,000 individuals with IBD, implicating multiple HLA alleles, with a primary role for HLA-DRB1*01:03 in both Crohn's disease and ulcerative colitis. Noteworthy differences were observed between these diseases, including a predominant role for class II HLA variants and heterozygous advantage observed in ulcerative colitis, suggesting an important role of the adaptive immune response in the colonic environment in the pathogenesis of IBD.

  • 16.
    Gustafsson, Per A
    et al.
    Department of Clinical and Experimental Medicine, Child and Adolescent Psychiatry, Linköping University, Linköping, Sweden.
    Gustafsson, Per E
    Department of Public Health and Clinical Medicine, Family Medicine, Umeå University, Umeå, Sweden.
    Anckarsäter, Henrik
    Department of Neuroscience and Physiology, Forensic Psychiatry, Gothenburg University, Gothenburg, Sweden.
    Lichtenstein, Paul
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Ljung, Therese
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Nelson, Nina
    Department of Clinical and Experimental Medicine, Department of Pediatrics, Linköping University, Linköping, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Heritability of cortisol regulation in children2011In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 14, no 6, p. 553-561Article in journal (Refereed)
    Abstract [en]

    BACKGROUND: The normal development of cortisol regulation during childhood is thought to be influenced by a complex interplay between environmental and genetic factors.

    METHOD: The aim of this study was to estimate genetic and environmental influences on basal cortisol levels in a sample of 151 twin pairs aged 9-16 years. Salivary cortisol was collected on two consecutive days when the children attended school--immediately after awakening, 30 min post-awakening and at bedtime.

    RESULTS: Heritability was highest (60%) for cortisol levels about 30 min after awakening. For samples taken immediately at awakening heritability was less pronounced (28%) and in the evening low (8%).

    CONCLUSION: The limited genetic influence on evening levels, moderate on cortisol at awakening and high on awakening response, might imply two genetic regulation patterns, one specifically for awakening response and one for the circadian rhythm proper. These findings could explain divergent results in previous studies and highlight the importance of taking the circadian rhythm into account in studies of cortisol levels in children.

  • 17.
    Huang, Qinghui
    et al.
    Key Laboratory of Yangtze Estuary Water Environment of the Ministry of Education, College of Environmental Science and Engineering, Tongji University, Shanghai, China; International Joint Research Center for Sustainable Urban Water System, Shanghai Institute of Pollution Control and Ecological Security, Shanghai, China.
    Wei, Lai
    Key Laboratory of Yangtze Estuary Water Environment of the Ministry of Education, College of Environmental Science and Engineering, Tongji University, Shanghai, China.
    Bignert, Anders
    Yibin Research Base of the Key Laboratory of Yangtze River Water Environment of the Ministry of Education, Yibin University, Yibin, Sichuan Province, China; Swedish Museum of Natural History, Stockholm, Sweden.
    Ye, Hua
    Yibin Research Base of the Key Laboratory of Yangtze River Water Environment of the Ministry of Education, Yibin University, Yibin, Sichuan Province, China.
    Huang, Fei
    Yibin Research Base of the Key Laboratory of Yangtze River Water Environment of the Ministry of Education, Yibin University, Yibin, Sichuan Province, China.
    Qiu, Yanling
    Key Laboratory of Yangtze Estuary Water Environment of the Ministry of Education, College of Environmental Science and Engineering, Tongji University, Shanghai, China; International Joint Research Center for Sustainable Urban Water System, Shanghai Institute of Pollution Control and Ecological Security, Shanghai, China.
    Bergman, Åke
    Örebro University, School of Science and Technology. International Joint Research Center for Sustainable Urban Water System, Shanghai Institute of Pollution Control and Ecological Security, Shanghai, China; Department of Environmental Science and Analytical Chemistry (ACES), Stockholm University, Stockholm, Sweden.
    Organophosphate flame retardants in heron eggs from upper Yangtze River basin, southwest China2019In: Chemosphere, ISSN 0045-6535, E-ISSN 1879-1298, Vol. 236, article id 124327Article in journal (Refereed)
    Abstract [en]

    The egg samples of four heron species, including black-crowned night heron (Nycticorax nycticorax), little egret (Egretta garzetta), Chinese pond heron (Ardeola bacchus) and cattle egret (Bubulcus ibis), were collected from the upper Yangtze River (Changjiang) Basin, Southwest China in early summer of 2017. Nine out of ten target organophosphate flame retardants (PFRs) were detected in these heron egg samples. The sum of concentrations of the PFRs quantified (∑PFRs) ranged from 63 to 590 pmol g-1 ww (18-185 ng g-1 ww) with a median value of 139 pmol g-1 ww (48 ng g-1 ww) among all samples. The median ∑PFRs in eggs of night herons (160 pmol g-1 ww) was higher than Chinese pond herons (median 121 pmol g-1 ww) and little egrets (median 109 pmol g-1 ww). In heron eggs, ∑PFRs were mainly contributed by tri-n-butyl phosphate (TNBP), tris (isobutyl) phosphate (TIBP), tris (1-chloro-2-propyl) phosphate (TCIPP) and tri-2-methylphenyl phosphate (TMPP). Alkyl-PFRs accounted for approximately 28%-85% (median 57%) of the nine PFRs quantified while the rest is contributed by aryl-PFRs and chlorinated PFRs. Lower levels of PFRs in little egret eggs were found upstream than downstream of the Yangtze. In addition, the daily intakes of PFRs through ingestion of heron eggs were estimated at lower levels.

  • 18.
    Jelenkovic, Aline
    et al.
    Department of Social Research, University of Helsinki, Helsinki, Finland; Department of Genetics, Physical Anthropology and Animal Physiology, University of the Basque Country UPV/EHU, Leioa, Spain.
    Tuvblad, Catherine
    Örebro University, School of Law, Psychology and Social Work.
    Silventoinen, Karri
    Department of Social Research, University of Helsinki, Helsinki, Finland; Osaka University Graduate School of Medicine, Osaka University, Osaka, Japan.
    Genetic and environmental influences on height from infancy to early adulthood: An individual-based pooled analysis of 45 twin cohorts2016In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 6, article id 28496Article in journal (Refereed)
    Abstract [en]

    Height variation is known to be determined by both genetic and environmental factors, but a systematic description of how their influences differ by sex, age and global regions is lacking. We conducted an individual-based pooled analysis of 45 twin cohorts from 20 countries, including 180,520 paired measurements at ages 1-19 years. The proportion of height variation explained by shared environmental factors was greatest in early childhood, but these effects remained present until early adulthood. Accordingly, the relative genetic contribution increased with age and was greatest in adolescence (up to 0.83 in boys and 0.76 in girls). Comparing geographic-cultural regions (Europe, North-America and Australia, and East-Asia), genetic variance was greatest in North-America and Australia and lowest in East-Asia, but the relative proportion of genetic variation was roughly similar across these regions. Our findings provide further insights into height variation during childhood and adolescence in populations representing different ethnicities and exposed to different environments.

  • 19.
    Lopez-Valladares, Gloria
    et al.
    Örebro University, School of Hospitality, Culinary Arts & Meal Science.
    Danielsson-Tham, Marie-Louise
    Örebro University, School of Hospitality, Culinary Arts & Meal Science.
    Goering, Richard V.
    Department of Medical Microbiology and Immunology, Creighton University Medical Center, School of Medicine, Omaha NE, USA.
    Tham, Wilhelm
    Örebro University, School of Hospitality, Culinary Arts & Meal Science.
    Lineage II (Serovar 1/2a and 1/2c) Human Listeria monocytogenes Pulsed-Field Gel Electrophoresis Types Divided into PFGE Groups Using the Band Patterns Below 145.5 kb2017In: Foodborne pathogens and disease, ISSN 1535-3141, E-ISSN 1556-7125, Vol. 14, no 1, p. 8-16Article in journal (Refereed)
    Abstract [en]

    Among 504 clinical lineage II isolates of Listeria monocytogenes isolated during 1958-2010 in Sweden, 119 pulsed-field gel electrophoresis (PFGE) types (AscI) have been identified based on the number and distribution of all banding patterns in each DNA profile. In this study, these types were further divided into PFGE groups based on the configuration of small bands with sizes <145.5 kb. The 504 isolates included 483 serovar 1/2a isolates distributed into 114 PFGE types and 21 serovar 1/2c isolates distributed into 9 PFGE types; these were further divided into 21 PFGE groups. PFGE group, that is, configuration of small bands below 145.5 kb, and serovars were correlated. L. monocytogenes isolates belonging to PFGE groups A, B, C, E, F, H, K, L, M, S, V, W, Y, and Ö-6 to Ö-12 shared serovar 1/2a, with one exception. PFGE group E also included two PFGE types sharing serovar 1/2c and four PFGE types belonging to either serovar 1/2a or 1/2c. Isolates belonging to PFGE group N shared serovar 1/2c. In contrast to lineage I isolates, small fragments <33.3 kb were visible in all L. monocytogenes isolates belonging to lineage II. In the results from both the present and previous studies, the genomic region of small bands was genetically more conservative than in large bands. The distribution of these small bands established the relatedness of strains and defined a genetic marker for both lineages I and II, while also establishing their serogroup. The division of L. monocytogenes PFGE types into PFGE groups is advantageous as the profile of every new isolate can be identified easily and quickly through first studying the PFGE group affiliation of the isolate based on the smaller band patterns <145.5 kb, and then identifying the PFGE type based on the band patterns >145.5 kb.

  • 20.
    Magnusson, Patrik K. E.
    et al.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Almqvist, Catarina
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Department of Women's and Children's Health and Astrid Lindgren Children's Hospital, Stockholm, Sweden.
    Rahman, Iffat
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Ganna, Andrea
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Viktorin, Alexander
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Walum, Hasse
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Halldner, Linda
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Center of Neurodevelopmental Disorders (KIND), Karolinska Institutet, Stockholm, Sweden.
    Lundström, Sebastian
    CELAM (Center for Ethics, Law and Mental Health), University of Gothenburg, Gothenburg, Sweden; R&D Unit, Swedish Prison and Probation Service, Norrköping, Sweden; Gillberg Neuropsychiatry Centre, Institution of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
    Ullén, Fredrik
    Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden.
    Långström, Niklas
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; R&D Unit, Swedish Prison and Probation Service, Norrköping, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Nyman, Anastasia
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Gumpert, Clara Hellner
    Centre for Psychiatry Research & Education, Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
    Råstam, Maria
    Department of Clinical Sciences, Lund University, Lund, Sweden.
    Anckarsäter, Henrik
    CELAM (Center for Ethics, Law and Mental Health), University of Gothenburg, Gothenburg, Sweden.
    Cnattingius, Sven
    Unit of Clinical Epidemiology, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.
    Johannesson, Magnus
    Department of Economics, Stockholm School of Economics, Stockholm, Sweden.
    Ingelsson, Erik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Klareskog, Lars
    Rheumatology Unit, Department of Medicine, Karolinska University Hospital, Stockholm, Sweden.
    de Faire, Ulf
    Division of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
    Pedersen, Nancy L.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Lichtenstein, Paul
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    The Swedish Twin Registry: establishment of a biobank and other recent developments2013In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 16, no 1, p. 317-329Article in journal (Refereed)
    Abstract [en]

    The Swedish Twin Registry (STR) today contains more than 194,000 twins and more than 75,000 pairs have zygosity determined by an intra-pair similarity algorithm, DNA, or by being of opposite sex. Of these, approximately 20,000, 25,000, and 30,000 pairs are monozygotic, same-sex dizygotic, and opposite-sex dizygotic pairs, respectively. Since its establishment in the late 1950s, the STR has been an important epidemiological resource for the study of genetic and environmental influences on a multitude of traits, behaviors, and diseases. Following large investments in the collection of biological specimens in the past 10 years we have now established a Swedish twin biobank with DNA from 45,000 twins and blood serum from 15,000 twins, which effectively has also transformed the registry into a powerful resource for molecular studies. We here describe the main projects within which the new collections of both biological samples as well as phenotypic measures have been collected. Coverage by year of birth, zygosity determination, ethnic heterogeneity, and influences of in vitro fertilization are also described.

  • 21.
    Markt, Sarah C.
    et al.
    Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA.
    Nuttall, Elizabeth
    Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA.
    Turman, Constance
    Program in Molecular and Genetic Epidemiology, Harvard TH Chan School of Public Health, Boston, USA.
    Sinnott, Jennifer
    Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA; Department of Statistics, Ohio State University, Columbus, USA.
    Rimm, Eric B.
    Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA; Department of Nutrition, Harvard TH Chan School of Public Health, Boston, USA; Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, USA.
    Ecsedy, Ethan
    Cabot School, Newton, USA.
    Unger, Robert H.
    Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA.
    Fall, Katja
    Örebro University, School of Medical Sciences. Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA; Division of Public Health Sciences, University of Iceland, Reykjavik, Iceland.
    Finn, Stephen
    Department of Pathology, Trinity College, Dublin, Republic of Ireland.
    Jensen, Majken K.
    Department of Nutrition, Harvard TH Chan School of Public Health, Boston, USA; Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, USA.
    Rider, Jennifer R.
    Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA; Department of Epidemiology, Boston University School of Public Health, Boston, USA.
    Kraft, Peter
    Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA; Department of Biostatistics, Harvard TH Chan School of Public Health, Boston, USA; Program in Molecular and Genetic Epidemiology, Harvard TH Chan School of Public Health, Boston, USA.
    Mucci, Lorelei A.
    Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, USA; Channing Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, US; Division of Public Health Sciences, University of Iceland, Reykjavik, Iceland.
    Sniffing out significant "Pee values": genome wide association study of asparagus anosmia2016In: BMJ-BRITISH MEDICAL JOURNAL, E-ISSN 1756-1833, Vol. 355, article id i6071Article in journal (Refereed)
    Abstract [en]

    Objective: To determine the inherited factors associated with the ability to smell asparagus metabolites in urine.

    Design: Genome wide association study.

    Sstting: Nurses' Health Study and Health Professionals Follow-up Study cohorts.

    Participants: 6909 men and women of European-American descent with available genetic data from genome wide association studies.

    Main outcome measure: Participants were characterized as asparagus smellers if they strongly agreed with the prompt "after eating asparagus, you notice a strong characteristic odor in your urine," and anosmic if otherwise. We calculated per-allele estimates of asparagus anosmia for about nine million single nucleotide polymorphisms using logistic regression. P values <5×10(-8) were considered as genome wide significant.

    Results: 58.0% of men (n=1449/2500) and 61.5% of women (n=2712/4409) had anosmia. 871 single nucleotide polymorphisms reached genome wide significance for asparagus anosmia, all in a region on chromosome 1 (1q44: 248139851-248595299) containing multiple genes in the olfactory receptor 2 (OR2) family. Conditional analyses revealed three independent markers associated with asparagus anosmia: rs13373863, rs71538191, and rs6689553.

    Conclusion: A large proportion of people have asparagus anosmia. Genetic variation near multiple olfactory receptor genes is associated with the ability of an individual to smell the metabolites of asparagus in urine. Future replication studies are necessary before considering targeted therapies to help anosmic people discover what they are missing.

  • 22.
    Melin, P.
    et al.
    Department of Microbiology, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Schnürer, Johan
    Department of Microbiology, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Wagner, E. G. H.
    Institute of Cell and Molecular Biology, Biomedical Center, Uppsala University, Uppsala, Sweden.
    Proteome analysis of Aspergillus nidulans reveals proteins associated with the response to the antibiotic concanamycin A, produced by Streptomyces species2002In: Molecular Genetics and Genomics, ISSN 1617-4615, E-ISSN 1617-4623, Vol. 267, no 6, p. 695-702Article in journal (Refereed)
    Abstract [en]

    Competition between microbes is common to all ecosystems, but the exact nature of the competition is in most cases unknown. We have previously Studied the antagonism between Streptomyces halstedii and several fungi at both the organismal and gene expression levels. Here we analysed the effect of an antibiotic produced by Streptomyces, concanamycin A, on protein levels in the filamentous fungus Aspergillus nidulans. Two-dimensional gel electrophoresis revealed that 20 proteins either increased or decreased in abundance upon treatment of the fungus with the antibiotic. Five of the most prominent proteins which changed in abundance were identified based on peptide analysis by mass spectrometry. Two of these correspond to proteins previously described in A. nidulans, and three others are homologous to proteins found in other organisms. Of these, one down-regulated protein was identified as glyceraldehyde dehydrogenase, a protein involved in general metabolic pathways. A second down-regulated protein. CpcB, affects the initiation of sexual development. Among the proteins not previously described in A. nidulans. all of them up-regulated by concanamycin A, we found two proteins with described homologues in other fungal species. The first is homologous to a cadmium-induced protein in Candida sp. The second protein is homologous to LovC, an enoyl transferase involved in the biosynthesis of lovastatin, a secondary metabolite identified in A. terreus. A third protein has a homologue in A. niger, which is of unknown function. This study indicates that proteome analysis may be a useful method for studying effects on gene expression during competitive interactions between bacteria and filamentous fungi.

  • 23.
    Melin, Petter
    et al.
    Department of Microbiology, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Schnürer, Johan
    Department of Microbiology, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Wagner, E. Gerhart H.
    Department of Microbiology, Biomedical Center, Institute of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.
    Characterization of phiA, a gene essential for phialide development in Aspergillus nidulans2003In: Fungal Genetics and Biology, ISSN 1087-1845, E-ISSN 1096-0937, Vol. 40, no 3, p. 234-241Article in journal (Refereed)
    Abstract [en]

    We have previously identified genes and proteins involved in the fungal response to the Streptomyces-produced antibiotics, bafilomycin 131 and concanamycin A, known inhibitors of V-ATPases. Using mRNA differential display we identified an Aspergillus nidulans gene with 30-fold up-regulated expression in the presence of bafilomycin. This gene, here denoted phiA, and its gene product, were further characterized by targeted gene disruption and immunohistochemistry. Phenotypically, the phiA mutation resulted in reduced growth and severely reduced sporulation. The abnormality could be traced to the phialides, which divided several times instead of forming a single flask-shaped cell. The importance of phiA for phialide and conidium development was supported by immunohistochemistry experiments that showed the protein to be mainly present in these two cell types. Attempts to relate phiA to inhibition of V-ATPases did not result in unambiguous conclusions, but suggest the possibility that changed expression of phiA is correlated with growth arrest caused by inhibited V-ATPases.

  • 24.
    Moberg, Therese
    et al.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Lichtenstein, Paul
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Forsman, Mats
    Centre for Violence Prevention, Karolinska Institutet, Stockholm, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Center of Neurodevelopmental Disorders, Karolinska Institutet, Stockholm, Sweden .
    Internalizing behavior in adolescent girls affects parental emotional overinvolvement: a cross-lagged twin study2011In: Behavior Genetics, ISSN 0001-8244, E-ISSN 1573-3297, Vol. 41, no 2, p. 223-233Article in journal (Refereed)
    Abstract [en]

    The aim of this study was to examine the direction and the etiology of the association between different parenting styles (parental emotional overinvolvement [EOI] and parental criticism) and internalizing behavior from adolescence to early adulthood. A longitudinal genetically informative cross-lagged design was applied to a population-based sample of Swedish twins contacted at age 16-17 (n = 2369) and at age 19-20 (n = 1705). Sex-limitation modelling revealed different effects for boys and girls. For girls, genetic influences on internalizing problems at age 16-17 independently explained 2.7% of the heritability in parental EOI at age 19-20. These results suggest that emotionally overinvolved and self-sacrificing parental behavior stems in part from daughters (but not sons) genetic predisposition for internalizing behavior. These findings highlight the importance of genetically influenced child-driven effects underlying the parenting-internalizing association, and clarify that the role of such effects may differ depending on sex, type of parenting and developmental period.

  • 25.
    Nilsson, Ola
    Örebro University, School of Medical Sciences. Örebro University Hospital, Örebro, Sweden; Division of Pediatric Endocrinology and Center for Molecular Medicine, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
    Growth and growth disorders in 2017: Genetic and epigenetic regulation of childhood growth2018In: Nature Reviews Endocrinology, ISSN 1759-5029, E-ISSN 1759-5037, Vol. 14, no 2, p. 71-72Article in journal (Refereed)
    Abstract [en]

    Studies of rare growth disorders taken together with large-scale genetic studies of adult height variability have uncovered a large genetic network regulating childhood growth. Advances in technology and experimental model systems will help decipher the molecular mechanisms of this complex network and lead to novel treatment approaches for growth disorders.

  • 26.
    Oresic, Matej
    et al.
    VTT Technical Research Centre of Finland, Espoo, Finland.
    Seppänen-Laakso, T.
    VTT Technical Research Centre of Finland, Espoo, Finland.
    Sun, D.
    Department of Psychology, University of California, Los Angeles CA, United States.
    Tang, J.
    VTT Technical Research Centre of Finland, Espoo, Finland.
    Therman, S.
    Department of Mental Health and Alcohol Research, National Institute for Health and Welfare, Helsinki, Finland.
    Viehman, R.
    Department of Psychology, University of California, Los Angeles CA, United States.
    Mustonen, U.
    Department of Mental Health and Alcohol Research, National Institute for Health and Welfare, Helsinki, Finland.
    van Erp, T. G.
    Department of Psychiatry and Human Behavior, University of California Irvine, Irvine CA, United States.
    Hyötyläinen, Tuulia
    VTT Technical Research Centre of Finland, Espoo, Finland.
    Thompson, P.
    Department of Neurology and Laboratory of NeuroImaging, University of California, Los Angeles CA, United States.
    Toga, A. W.
    Department of Neurology and Laboratory of NeuroImaging, University of California, Los Angeles CA, United States.
    Huttunen, M. O.
    Department of Mental Health and Alcohol Research, National Institute for Health and Welfare, Helsinki, Finland.
    Suvisaari, J.
    Department of Mental Health and Alcohol Research, National Institute for Health and Welfare, Helsinki, Finland.
    Kaprio, J.
    Department of Mental Health and Alcohol Research, National Institute for Health and Welfare, Helsinki, Finland; Department of Public Health, University of Helsinki, Helsinki, Finland.
    Lönnqvist, J.
    Department of Mental Health and Alcohol Research, National Institute for Health and Welfare, Helsinki, Finland; Department of Psychiatry, Helsinki University Hospital, Helsinki, Finland.
    Cannon, T. D.
    Department of Psychology, University of California, Los Angeles CA, United States; Department of Psychiatry and Biobehavioral Sciences, University of California Los, Los Angeles CA, United States.
    Phospholipids and insulin resistance in psychosis: A lipidomics study of twin pairs discordant for schizophrenia2012In: Genome Medicine, ISSN 1756-994X, E-ISSN 1756-994X, Vol. 4, no 1, article id 1Article in journal (Refereed)
    Abstract [en]

    Background: Several theories have been proposed to conceptualize the pathological processes inherent to schizophrenia. The 'prostaglandin deficiency' hypothesis postulates that defective enzyme systems converting essential fatty acids to prostaglandins lead to diminished levels of prostaglandins, which in turn affect synaptic transmission.

    Methods: Here we sought to determine the lipidomic profiles associated with schizophrenia in twin pairs discordant for schizophrenia as well as unaffected twin pairs. The study included serum samples from 19 twin pairs discordant for schizophrenia (mean age 51 +/- 10 years; 7 monozygotic pairs; 13 female pairs) and 34 age and gender matched healthy twins as controls. Neurocognitive assessment data and gray matter density measurements taken from high-resolution magnetic resonance images were also obtained. A lipidomics platform using ultra performance liquid chromatography coupled to time-of-flight mass spectrometry was applied for the analysis of serum samples.

    Results: In comparison to their healthy co-twins, the patients had elevated triglycerides and were more insulin resistant. They had diminished lysophosphatidylcholine levels, which associated with decreased cognitive speed.

    Conclusions: Our findings may be of pathophysiological relevance since lysophosphatidylcholines, byproducts of phospholipase A2-catalyzed phospholipid hydrolysis, are preferred carriers of polyunsaturated fatty acids across the blood-brain barrier. Furthermore, diminishment of lysophosphatidylcholines suggests that subjects at risk of schizophrenia may be more susceptible to infections. Their association with cognitive speed supports the view that altered neurotransmission in schizophrenia may be in part mediated by reactive lipids such as prostaglandins.

  • 27.
    Ozantürk, Ayşegül
    et al.
    Institute of Child Health and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
    Marshall, Jan D
    The Jackson Laboratory, Bar Harbor ME, USA.
    Collin, Gayle B
    The Jackson Laboratory, Bar Harbor ME, USA.
    Düzenli, Selma
    Department of Medical Genetics, Abant İzzet Baysal University, Bolu, Turkey.
    Marshall, Robert P
    Alström Syndrome International, Mount Desert ME, USA.
    Candan, Şükrü
    Department of Medical Genetics, Atatürk State Hospital, Balıkesir, Turkey.
    Tos, Tülay
    Dr. Sami Ulus Maternity and Children’s Hospital, Ankara, Turkey.
    Esen, İhsan
    Ankara Pediatric Health and Hematology Oncology Hospital, Ankara,Turkey.
    Taşkesen, Mustafa
    Department of Pediatrics, Dicle University, Diyarbakır, Turkey.
    Çayır, Atilla
    Pediatric Endocrinology Unit, Department of Medical Genetics, Atatürk University and Erzurum Regional Training and Research Hospital, Erzurum, Turkey.
    Öztürk, Şükrü
    Department of Medical Genetics, Istanbul Medical Faculty, İstanbul University, İstanbul, Turkey.
    Üstün, İhsan
    Department of Endocrinology, Mustafa Kemal University Hospital, Hatay, Turkey.
    Ataman, Esra
    Department of Medical Genetics, Ege University, İzmir, Turkey.
    Karaca, Emin
    İzmir Tepecik Training and Research Hospital Genetic Diagnostic Center, İzmir, Turkey.
    Özdemir, Taha Reşid
    İzmir Tepecik Training and Research Hospital Genetic Diagnostic Center, İzmir, Turkey.
    Erol, İlknur
    Division of Pediatric Neurology, Adana Teaching and Medical Research Center, Başkent University, Adana, Turkey.
    Eroğlu, Fehime Kara
    Nephrology Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey.
    Torun, Deniz
    Department of Medical Genetics, Gülhane Military Medical Faculty, Ankara, Turkey.
    Parıltay, Erhan
    Department of Medical Genetics, Ege University, İzmir, Turkey.
    Yilmaz-Gülec, Elif
    Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey.
    Karaca, Ender
    Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey.
    Atabek, ME
    Department of Pediatric Endocrinology, Necmettin Erbakan University, Konya, Turkey.
    Elcioglu, N
    Department of Pediatric Genetics, Marmara University Pendik Hospital, İstanbul, Turkey.
    Satman, I
    Division of Endocrinology and Metabolism, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Turkey.
    Möller, Claes
    Örebro University Hospital. Department Audiology, The Swedish Institute for Disability Research, Örebro University Hospital, Örebro, Sweden.
    Muller, J
    Laboratoire ICUBE, UMR CNRS 7357, LBGI, Université de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR 7104/INSERM U964,Université de Strasbourg, Illkirch, France; Laboratoire de diagnostic génétique, Hôtpitaux Universitaires de Strasbourg, Strasbourg, France.
    Naggert, JK
    The Jackson Laboratory, Bar Harbor ME, USA.
    Ozgül, RK
    Institute of Child Health and Metabolism Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
    The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey2015In: International Journal of Human Genetics, ISSN 0972-3757, Vol. 60, no 1, p. 1-9Article in journal (Refereed)
    Abstract [en]

    Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.

  • 28.
    Paramel, Geena
    et al.
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Folkersen, Lasse
    Atherosclerosis Research Unit, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
    Strawbridge, Rona J.
    Atherosclerosis Research Unit, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
    Elmabsout, Ali
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Särndahl, Eva
    Örebro University, School of Medicine, Örebro University, Sweden.
    Lundman, Pia
    Division of Cardiovascular Medicine, Department of Clinical Sciences, Karolinska Institutet, Danderyd University Hospital, Stockholm, Sweden.
    Jansson, Jan-Håkan
    Department of Internal Medicine, Skellefteå Hospital, Umeå, Sweden; Department of Internal Medicine, Umeå University Hospital, Umeå, Sweden.
    Hansson, Göran K.
    Experimental Cardiovascular Research Unit, Center for Molecular Medicine, Department of Medicine, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
    Sirsjö, Allan
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    Fransén, Karin
    Örebro University, School of Health and Medical Sciences, Örebro University, Sweden.
    CARD8 gene encoding a protein of innate immunity is expressed in human atherosclerosis and associated with markers of inflammation2013In: Clinical Science, ISSN 0143-5221, E-ISSN 1470-8736, Vol. 125, no 8, p. 401-407Article in journal (Refereed)
    Abstract [en]

    Inflammation is a key factor in the development of atherosclerotic coronary artery disease. It is promoted through the inflammasome, a molecular machine that produces IL (interleukin)-1 beta in response to cholesterol crystal accumulation in macrophages. The CARD8 (caspase recruitment domain 8) protein modulates this process by suppressing caspase 1 and the transcription factor NF-kappa B (nuclear factor kappa B). The expression of CARD8 mRNA was examined in atherosclerotic vascular tissue and the impact on MI (myocardial infarction) of a polymorphism in the CARD8 gene determined. CARD8 mRNA was analysed by microarray of human atherosclerotic tissue and compared with transplant donor arterial tissue. Microarray analysis was performed for proximal genes associated with the rs2043211 locus in plaque. The CARD8 rs2043211 polymorphism was analysed by genotyping of two Swedish MI cohorts, FIA (First Myocardial Infarction in Northern Sweden) and SCARF (Stockholm Coronary Atherosclerosis Risk Factor). The CRP (C-reactive protein) level was measured in both cohorts, but the levels of the pro-inflammatory cytokines IL-1 beta, IL-18, TNF (tumour necrosis factor) and MCP-1 (monocyte chemoattractant protein) were measured in sera available from the SCARF cohort. CARD8 mRNA was highly expressed in atherosclerotic plaques compared with the expression in transplant donor vessel (P < 0.00001). The minor allele was associated with lower expression of CARD8 in the plaques, suggesting that CARD8 may promote inflammation. Carriers of the minor allele of the rs2043211 polymorphism also displayed lower circulating CRP and lower levels of the pro-atherosclerotic chemokine MCP-1. However, no significant association could be detected between this polymorphism and MI in the two cohorts. Genetic alterations in the CARD8 gene therefore seem to be of limited importance for the development of MI.

  • 29.
    Quinn, Patrick D.
    et al.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Pettersson, Erik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Lundström, Sebastian
    Gillberg Neuropsychiatry Centre, University of Gothenburg, Gothenburg, Sweden.
    Anckarsäter, Henrik
    Department of Psychiatry and Neurochemistry, University of Gothenburg, Gothenburg, Sweden.
    Långström, Niklas
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Gumpert, Clara Hellner
    Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Lichtenstein, Paul
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    D'Onofrio, Brian M.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Childhood attention-deficit/hyperactivity disorder symptoms and the development of adolescent alcohol problems: A prospective, population-based study of Swedish twins2016In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 171, no 7, p. 958-970Article in journal (Refereed)
    Abstract [en]

    Children with attention-deficit/hyperactivity disorder (ADHD) are at increased risk of problematic alcohol and other substance use in adolescence. This study used data from an ongoing, prospective, population-based twin study of Swedish children and adolescents to evaluate the extent to which the association between ADHD symptoms and alcohol problems reflects a unique source of genetic or environmental risk related to ADHD versus a broader predisposition to youth externalizing behavior. We used all available data from same-sex monozygotic (MZ) and dizygotic (DZ) twins on ADHD symptoms in childhood (age 9/12; N = 15,549) and alcohol problems in late adolescence (age 18; N = 2,564). Consistent with prior longitudinal studies, the phenotypic association between hyperactive/impulsive ADHD symptoms and alcohol problems was small in magnitude, whereas the association for inattentive symptoms was even weaker. Additive genetic influences explained 99.8% of the association between hyperactive/impulsive symptoms and alcohol problems. Furthermore, we found that the genetic risk specifically associated with hyperactive/impulsive symptoms was attenuated when estimated in the context of externalizing behavior liability during childhood, of which ADHD symptoms were specific expressions. In sensitivity analyses exploring hyperactivity in mid-adolescence, we found a similar pattern of genetic associations. These results are consistent with previous findings of genetically driven overlap in the etiology of ADHD and problematic alcohol use. At least some of this co-occurrence may result from a general predisposition to externalizing behaviors in youth. © 2015 Wiley Periodicals, Inc.

  • 30.
    Rai, Neha
    et al.
    Organismal and Evolutionary Biology Research Programme, Viikki Plant Science Centre (ViPS), University of Helsinki, Helsinki, Finland.
    Neugart, Susanne
    Research Area of Plant Quality and Food Security, Leibniz Institute of Vegetable and Ornamental Crops e. V., Grossbeeren, Germany.
    Yan, Yan
    Organismal and Evolutionary Biology Research Programme, Viikki Plant Science Centre (ViPS), University of Helsinki, Helsinki, Finland.
    Wang, Fang
    Organismal and Evolutionary Biology Research Programme, Viikki Plant Science Centre (ViPS), University of Helsinki, Helsinki, Finland.
    Siipola, Sari M.
    Organismal and Evolutionary Biology Research Programme, Viikki Plant Science Centre (ViPS), University of Helsinki, Helsinki, Finland.
    Lindfors, Anders V.
    Finnish Meteorological Institute, Helsinki, Finland.
    Winkler, Jana Barbro
    Research Unit Environmental Simulation, Helmholtz Zentrum München, Neuherberg, Germany.
    Albert, Andreas
    Research Unit Environmental Simulation, Helmholtz Zentrum München, Neuherberg, Germany.
    Brosché, Mikael
    Organismal and Evolutionary Biology Research Programme, Viikki Plant Science Centre (ViPS), University of Helsinki, Helsinki, Finland.
    Lehto, Tarja
    School of Forest Sciences, University of Eastern Finland, Joensuu, Finland.
    Morales, Luis Orlando
    Organismal and Evolutionary Biology Research Programme, Viikki Plant Science Centre (ViPS), University of Helsinki, Helsinki, Finland.
    Aphalo, Pedro J.
    Organismal and Evolutionary Biology Research Programme, Viikki Plant Science Centre (ViPS), University of Helsinki, Helsinki, Finland.
    How do cryptochromes and UVR8 interact in natural and simulated sunlight?2019In: Journal of Experimental Botany, ISSN 0022-0957, E-ISSN 1460-2431, Vol. 70, no 18, p. 4975-4990Article in journal (Refereed)
    Abstract [en]

    Cryptochromes (CRYs) and UV RESISTANCE LOCUS 8 (UVR8) photoreceptors perceive UV-A/blue (315–500 nm) and UV-B (280–315 nm) radiation in plants, respectively. While the roles of CRYs and UVR8 have been studied in separate controlled environment experiments, little is known about the interaction between these photoreceptors. Here, Arabidopsis thaliana wild-type Ler, CRYs and UVR8 photoreceptor mutants (uvr82, cry1cry2 and cry1cry2uvr82), and a flavonoid biosynthesis defective mutant (tt4) were grown in a sun simulator. Plants were exposed to filtered radiation for 17 d or for 6 h, to study the effects of blue, UV-A and UV-B radiation. Both CRYs and UVR8 independently enabled growth and survival of plants under solar levels of UV, while their joint absence was lethal under UV-B. CRYs mediated gene expression under blue light. UVR8 mediated gene expression under UV-B radiation, and in the absence of CRYs, also under UV-A. This negative regulation of UVR8-mediated gene expression by CRYs was also observed for UV-B. The accumulation of flavonoids was also consistent with this interaction between CRYs and UVR8. In conclusion, we provide evidence for an antagonistic interaction between CRYs and UVR8 and a role of UVR8 in UV-A perception.

  • 31.
    Rydell, Mina
    et al.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Taylor, Mark J.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Larsson, Henrik
    Örebro University, School of Medical Sciences. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Genetic and environmental contributions to the association between ADHD and affective problems in early childhood: A Swedish population-based twin study2017In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 174, no 5, p. 538-546Article in journal (Refereed)
    Abstract [en]

    Few twin studies have explored the relative contribution of genetic and environmental factors to the association between attention deficit hyperactivity disorder (ADHD) and affective problems, and no study has focused on preschool children. We used the classical twin design to explore the genetic and environmental overlap between ADHD symptoms and affective problems in preschool children, based on 879 five-year-old twin pairs born in Sweden 2004-2005. Questionnaire-based parent-ratings were used to measure ADHD symptoms and affective problems. A bivariate twin design was used to decompose variance in ADHD and affective problems into genetic and environmental components, and to test the degree to which these components overlapped across the two traits. Our results showed that there was a significant correlation of 0.34 (95% Confidence Interval [CI] 0.29-0.38) between ADHD and affective problems. This correlation was mostly explained by additive genetic factors (64%, 95%CI 37-93%), and to a lesser extent by shared environmental factors (35%, 95%CI 10-59%). Nonshared environmental factors did not contribute to the correlation between ADHD and affective problems (0%, 95%CI -9 to 10%). These findings show that there is a significant association between ADHD and affective problems in preschool children that is mostly explained by genetic influences. This adds important knowledge about the etiology of both ADHD and affective problems by indicating that these phenotypes are linked from as early as preschool years. This also needs to be taken into consideration when diagnosing young children and clinicians should consider assessing both affective problems and ADHD if one is present.

  • 32.
    Schumacher, J
    et al.
    Institut für Humangenetik, Universität Bonn, Germany.
    König, I R
    Institut für Medizinische Biometrie und Statistik, Universitätsklinikum Schleswig-Holstein, Universität Zu Lübeck, Lübeck, Germany .
    Plume, E
    Klinik und Poliklinik für Kinder- und Jugendpsychiatrie, Julius-Maximilians-Universität Würzburg, Würzburg, Germany.
    Propping, P
    Institut für Humangenetik, Universität Bonn, Germany.
    Warnke, A
    Klinik und Poliklinik für Kinder- und Jugendpsychiatrie, Julius-Maximilians-Universität Würzburg, Würzburg, Germany.
    Manthey, M
    Institut für Humangenetik, Universität Bonn, Germany.
    Duell, M
    Institut für Humangenetik, Universität Bonn, Germany.
    Kleensang, A
    Institut für Medizinische Biometrie und Statistik, Universitätsklinikum Schleswig-Holstein, Universität Zu Lübeck, Lübeck, Germany .
    Repsilber, Dirk
    Institut für Medizinische Biometrie und Statistik, Universitätsklinikum Schleswig-Holstein, Universität Zu Lübeck, Lübeck, Germany .
    Preis, M
    Klinik für Psychiatrie und Psychotherapie des Kindes- und Jugendalters, Philipps-Universität Marburg, Marburg, Germany .
    Remschmidt, H
    Klinik für Psychiatrie und Psychotherapie des Kindes- und Jugendalters, Philipps-Universität Marburg, Marburg, Germany .
    Ziegler, Andreas
    Institut für Medizinische Biometrie und Statistik, Universitätsklinikum Schleswig-Holstein, Universität Zu Lübeck, Lübeck, Germany .
    Nöthen, M M
    Department of Genomics, Life and Brain Center, Universität Bonn, Germany .
    Schulte-Körne, G
    Klinik für Psychiatrie und Psychotherapie des Kindes- und Jugendalters, Philipps-Universität Marburg, Marburg, Germany; Department of Child and Adolescent Psychiatry, Philipps University Marburg, Marburg, Germany .
    Linkage analyses of chromosomal region 18p11-q12 in dyslexia2006In: Journal of neural transmission, ISSN 0300-9564, E-ISSN 1435-1463, Vol. 113, no 3, p. 417-23Article in journal (Refereed)
    Abstract [en]

    Dyslexia is characterized as a significant impairment in reading and spelling ability that cannot be explained by low intelligence, low school attendance or deficits in sensory acuity. It is known to be a hereditary disorder that affects about 5% of school aged children, making it the most common of childhood learning disorders. Several susceptibility loci have been reported on chromosomes 1, 2, 3, 6, 15, and 18. The locus on chromosome 18 has been described as having the strongest influence on single word reading, phoneme awareness, and orthographic coding in the largest genome wide linkage study published to date (Fisher et al., 2002). Here we present data from 82 German families in order to investigate linkage of various dyslexia-related traits to the previously described region on chromosome 18p11-q12. Using two- and multipoint analyses, we did not find support for linkage of spelling, single word reading, phoneme awareness, orthographic coding and rapid naming to any of the 14 genotyped STR markers. Possible explanations for our non-replication include differences in study design, limited power of our study and overestimation of the effect of the chromosome 18 locus in the original study.

  • 33.
    Silventoinen, Karri
    et al.
    Population Research Unit, Department of Social Research, University of Helsinki, Helsinki, Finland; Graduate School of Medicine, Osaka University, Osaka, Japan.
    Tuvblad, Catherine
    Örebro University, School of Law, Psychology and Social Work. Department of Psychology, University of Southern California, Los Angeles CA, USA.
    Kaprio, Jaako
    Department of Public Health, University of Helsinki, Helsinki, Helsinki, Finland; National Institute for Health and Welfare, Helsinki, Finland; Institute for Molecular Medicine FIMM, Helsinki, Finland.
    The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits2015In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 18, no 4, p. 348-360Article in journal (Refereed)
    Abstract [en]

    For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m(2)) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.

  • 34.
    Stenmark, Bianca
    et al.
    Örebro University, School of Medical Sciences. Örebro University Hospital. Department of Laboratory Medicine.
    Harrison, Odile B.
    Department of Zoology, University of Oxford, Oxford, United Kingdom.
    Eriksson, Lorraine
    Örebro University, School of Medical Sciences. Department of Laboratory Medicine.
    Anton, Brian P
    Fomenkov, Alexey
    New England Biolabs, Ipswich, Massachusetts, USA.
    Roberts, Richard J.
    New England Biolabs, Ipswich, Massachusetts, USA.
    Tooming-Klunderud, Ave
    Centre for Ecological and Evolutionary Synthesis, Department of Biosciences, University of Oslo, Oslo, Norway..
    Bratcher, Holly B.
    Department of Zoology, University of Oxford, Oxford, United Kingdom.
    Bray, James E.
    Department of Zoology, University of Oxford, Oxford, United Kingdom.
    Thulin-Hedberg, Sara
    Department of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
    Maiden, Martin C. J.
    Department of Zoology, University of Oxford, Oxford, United Kingdom.
    Mölling, Paula
    Department of Laboratory Medicine, Faculty of Medicine and Health, Örebro University, Örebro, Sweden.
    Complete genome and methylome analysis of Neisseria meningitidis associated with increased serogroup Y disease.2020In: Scientific Reports, ISSN 2045-2322, E-ISSN 2045-2322, Vol. 10, no 1, article id 3644Article in journal (Refereed)
    Abstract [en]

    Invasive meningococcal disease (IMD) due to serogroup Y Neisseria meningitidis emerged in Europe during the 2000s. Draft genomes of serogroup Y isolates in Sweden revealed that although the population structure of these isolates was similar to other serogroup Y isolates internationally, a distinct strain (YI) and more specifically a sublineage (1) of this strain was responsible for the increase of serogroup Y IMD in Sweden. We performed single molecule real-time (SMRT) sequencing on eight serogroup Y isolates from different sublineages to unravel the genetic and epigenetic factors delineating them, in order to understand the serogroup Y emergence. Extensive comparisons between the serogroup Y sublineages of all coding sequences, complex genomic regions, intergenic regions, and methylation motifs revealed small point mutations in genes mainly encoding hypothetical and metabolic proteins, and non-synonymous variants in genes involved in adhesion, iron acquisition, and endotoxin production. The methylation motif CACNNNNNTAC was only found in isolates of sublineage 2. Only seven genes were putatively differentially expressed, and another two genes encoding hypothetical proteins were only present in sublineage 2. These data suggest that the serogroup Y IMD increase in Sweden was most probably due to small changes in genes important for colonization and transmission.

  • 35.
    Sujan, Ayesha C.
    et al.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Rickert, Martin E.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Class, Quetzal A.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    Coyne, Claire A.
    Ann and Robert H. Lurie Children’s Hospital, Chicago, USA.
    Lichtenstein, Paul
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Almqvist, Catarina
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Sjölander, Arvid
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Lahey, Benjamin B.
    Department of Public Health Sciences, University of Chicago, Chicago, USA.
    van Hulle, Carol
    Waisman Center, University of Wisconsin, Madison, USA.
    Waldman, Irwin
    Department of Psychology, Emory University, Atlanta, USA.
    Öberg, A. Sara
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, USA.
    D'Onofrio, Brian M.
    Department of Psychological and Brain Sciences, Indiana University, Bloomington, USA.
    A Genetically Informed Study of the Associations Between Maternal Age at Childbearing and Adverse Perinatal Outcomes2016In: Behavior Genetics, ISSN 0001-8244, E-ISSN 1573-3297, Vol. 46, no 3, p. 431-456Article in journal (Refereed)
    Abstract [en]

    We examined associations of maternal age at childbearing (MAC) with gestational age and fetal growth (i.e., birth weight adjusting for gestational age), using two genetically informed designs (cousin and sibling comparisons) and data from two cohorts, a population-based Swedish sample and a nationally representative United States sample. We also conducted sensitivity analyses to test limitations of the designs. The findings were consistent across samples and suggested that, associations observed in the population between younger MAC and shorter gestational age were confounded by shared familial factors; however, associations of advanced MAC with shorter gestational age remained robust after accounting for shared familial factors. In contrast to the gestational age findings, neither early nor advanced MAC was associated with lower fetal growth after accounting for shared familial factors. Given certain assumptions, these findings provide support for a causal association between advanced MAC and shorter gestational age. The results also suggest that there are not causal associations between early MAC and shorter gestational age, between early MAC and lower fetal growth, and between advanced MAC and lower fetal growth.

  • 36.
    Tham, Wilhelm
    et al.
    Department of Food Hygiene, Faculty of Veterinary Medicine, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Bannerman, Elisabeth
    Centre National des Listeria, Institut de Microbiologi, Lausanne, Switzerland.
    Bille, Jacques
    Centre National des Listeria, Institut de Microbiologi, Lausanne, Switzerland.
    Danielsson-Tham, Marie-Louise
    Department of Food Hygiene, Faculty of Veterinary Medicine, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Ericsson, Henrik
    Department of Food Hygiene, Faculty of Veterinary Medicine, SLU, Uppsala, Sweden.
    Helmersson, Seved
    Department of Food Hygiene, Faculty of Veterinary Medicine, SLU, Uppsala, Sweden.
    Henriques, Birgitta
    Swedish Institute for Infectious Disease Control, Solna, Sweden.
    Christina, Jacquet
    Laboratoire des Listeria, Institut Pasteur, Paris, France.
    Loncarevic, Semir
    Department of Food Hygiene, Faculty of Veterinary Medicine, SLU, Uppsala, Sweden.
    Rocourt, Jocelyne
    Laboratoire des Listeria, Institut Pasteur, Paris, France.
    Unnerstad, Helle
    Department of Food Hygiene, Faculty of Veterinary Medicine, SLU, Uppsala, Sweden.
    Ursing, Jan
    Dep of Clinical Microbiology, University of Lund, General Hospital, Malmö, Sweden.
    Swedish human cases of Listeriosis, 1958–1999: Visulized by LEGO Bricks2000In: Nordic PFGE meeting January 27–28, 2000. Collection of abstracts. Department of Food Hygiene, Faculty of Veterinary Medicine, SLU, Uppsala / [ed] Marie-Louise Danielsson-Tham , Wilhelm Tham, Uppsala: Dep of Food Hygiene, Faculty of Veterinary Medicine, SLU , 2000, p. 27-27Conference paper (Refereed)
  • 37.
    Tuvblad, Catherine
    et al.
    University of Southern California, Los Angeles, USA.
    Baker, Laura A.
    University of Southern California, Los Angeles, USA.
    Human aggression across the lifespan: genetic propensities and environmental moderators2011In: Aggression / [ed] Robert Huber, Danika L. Bannasch and Patricia Brennan, San Diego: Academic Press, 2011, p. 171-214Chapter in book (Refereed)
    Abstract [en]

    This chapter reviews the recent evidence of genetic and environmental influences on human aggression. Findings from a large selection of the twin and adoption studies that have investigated the genetic and environmental architecture of aggressive behavior are summarized. These studies together show that about half (50%) of the variance in aggressive behavior is explained by genetic influences in both males and females, with the remaining 50% of the variance being explained by environmental factors not shared by family members. Form of aggression (reactive, proactive, direct/physical, indirect/relational), method of assessment (laboratory observation, self-report, ratings by parents and teachers), and age of the subjects—all seem to be significant moderators of the magnitude of genetic and environmental influences on aggressive behavior. Neither study design (twin vs. sibling adoption design) nor sex (male vs. female) seems to impact the magnitude of the genetic and environmental influences on aggression. There is also some evidence of gene-environment interaction (G × E) from both twin/adoption studies and molecular genetic studies. Various measures of family adversity and social disadvantage have been found to moderate genetic influences on aggressive behavior. Findings from these G × E studies suggest that not all individuals will be affected to the same degree by experiences and exposures, and that genetic predispositions may have different effects depending on the environment.

  • 38.
    Tuvblad, Catherine
    et al.
    Örebro University, School of Law, Psychology and Social Work. Department of Psychology, University of Southern California, Los Angeles, USA.
    May, Marcella
    Department of Psychology, University of Southern California, Los Angeles, USA.
    Jackson, Nicholas
    University of Southern California, Los Angeles, USA.
    Raine, Adrian
    Departments of Criminology, Psychiatry, and Psychology, University of Pennsylvania, Philadelphia, USA.
    Baker, Laura A.
    Department of Psychology, University of Southern California, Los Angeles, USA.
    Heritability and Longitudinal Stability of Planning and Behavioral Disinhibition Based on the Porteus Maze Test2017In: Behavior Genetics, ISSN 0001-8244, E-ISSN 1573-3297, Vol. 47, no 2, p. 164-174Article in journal (Refereed)
    Abstract [en]

    The Porteus Maze Test (PMT) provides measures of planning and behavioral disinhibition. The PMT was administered to 941 twins during Wave 1 (9-10 years) and 320 twins during Wave 2 (11-13 years). Participants were drawn from the University of Southern California Risk Factors for Antisocial Behavior Study (RFAB). Heritability of behavioral disinhibition, determined by PMT Q-Score, were 33% at Wave 1 and 52% at Wave 2. For planning, determined by Test Age, heritability was 53% at Wave 1; at Wave 2, the non-shared environment was important in boys, whereas genetic influences were important in girls. Both indices were modestly stable (r = 0.52; r = 0.37). A common genetic factor influenced both indices, respectively, at the two time points, with no 'new' genetic variance at Wave 2; the non-shared environment was time-specific. Thus, both genetic and non-shared environmental influences are important for behavioral disinhibition (Q-Score) and planning (Test Age).

  • 39.
    Tuvblad, Catherine
    et al.
    Örebro University, School of Law, Psychology and Social Work. Department of Psychology, University of Southern California, Los Angeles CA, USA.
    Narusyte, Jurgita
    Department of Clinical Neuroscience, Karolinska Institute, Stockholm, Sweden.
    Comasco, Erika
    Department of Neuroscience, Uppsala biomedicinska centrum (BMC), Uppsala University, Uppsala, Sweden.
    Andershed, Henrik
    Örebro University, School of Law, Psychology and Social Work.
    Andershed, Anna-Karin
    Örebro University, School of Law, Psychology and Social Work.
    Colins, Olivier F.
    School of Law, Psychology and Social Work, Örebro University, Örebro, Sweden; Department of Child and Adolescent Psychiatry, Curium-Leiden University Medical Center, Leiden, The Netherlands.
    Fanti, Kostas A.
    Department of Psychology, University of Cyprus, Nicosia, Cyprus.
    Nilsson, Kent W.
    Center for Clinical Research, Uppsala University, County Hospital, Västerås, Sweden.
    Physical and verbal aggressive behavior and COMT genotype: Sensitivity to the environment2016In: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, E-ISSN 1552-485X, Vol. 171, no 5, p. 708-718Article in journal (Refereed)
    Abstract [en]

    Catechol-O-methyltransferase (COMT) genotype has been implicated as a vulnerability factor for several psychiatric diseases as well as aggressive behavior, either directly, or in interaction with an adverse environment. The present study aimed at investigating the susceptibility properties of COMT genotype to adverse and favorable environment in relation to physical and verbal aggressive behavior. The COMT Val158Met polymorphism was genotyped in a Swedish population-based cohort including 1,783 individuals, ages 20-24 years (47% males). A significant three-way interaction was found, after correction for multiple testing, between COMT genotype, exposure to violence, and parent-child relationship in association with physical but not verbal aggressive behavior. Homozygous for the Val allele reported lower levels of physical aggressive behavior when they were exposed to violence and at the same time experienced a positive parent-child relationship compared to Met carriers. Thus, susceptibility properties of COMT genotype were observed in relation to physical aggressive behavior supporting the hypothesis that COMT genotypes are modifying the sensitivity to environment that confers either risk or protection for aggressive behavior. As these are novel findings, they warrant further investigation and replication in independent samples.

  • 40.
    Ventham, N. T.
    et al.
    Gastrointestinal Unit, Centre for Genomics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
    Kennedy, N. A.
    Gastrointestinal Unit, Centre for Genomics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
    Adams, A. T.
    Gastrointestinal Unit, Centre for Genomics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
    Kalla, R.
    Gastrointestinal Unit, Centre for Genomics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
    Heath, S.
    CNAG-CRG, Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
    O'Leary, K. R.
    Gastrointestinal Unit, Centre for Genomics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
    Drummond, H.
    Gastrointestinal Unit, Centre for Genomics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
    IBD CHARACTER, consortium
    Wilson, D. C.
    Department of Child Life and Health, University of Edinburgh, Edinburgh, UK.
    Gut, I. G.
    CNAG-CRG, Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain.
    Nimmo, E. R.
    Gastrointestinal Unit, Centre for Genomics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
    Satsangi, J.
    Gastrointestinal Unit, Centre for Genomics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
    Integrative epigenome-wide analysis demonstrates that DNA methylation may mediate genetic risk in inflammatory bowel disease2016In: Nature Communications, ISSN 2041-1723, E-ISSN 2041-1723, Vol. 7, article id 13507Article in journal (Refereed)
    Abstract [en]

    Epigenetic alterations may provide important insights into gene-environment interaction in inflammatory bowel disease (IBD). Here we observe epigenome-wide DNA methylation differences in 240 newly-diagnosed IBD cases and 190 controls. These include 439 differentially methylated positions (DMPs) and 5 differentially methylated regions (DMRs), which we study in detail using whole genome bisulphite sequencing. We replicate the top DMP (RPS6KA2) and DMRs (VMP1, ITGB2 and TXK) in an independent cohort. Using paired genetic and epigenetic data, we delineate methylation quantitative trait loci; VMP1/microRNA-21 methylation associates with two polymorphisms in linkage disequilibrium with a known IBD susceptibility variant. Separated cell data shows that IBD-associated hypermethylation within the TXK promoter region negatively correlates with gene expression in whole-blood and CD8(+) T cells, but not other cell types. Thus, site-specific DNA methylation changes in IBD relate to underlying genotype and associate with cell-specific alteration in gene expression.

  • 41.
    Waak, Elisabet
    et al.
    Arla FoU, Stockholm, Sweden.
    Tham, Wilhelm
    Department of Food Hygiene, Faculty of Veterinary Medicine, Swedish University of Agricultural Sciences, Uppsala, Sweden.
    Fingerprinting of Listeria monocytogenes isolated in silos for raw whole milk of a dairy plant2000In: Nordic PFGE meeting. January 27–28, 2000. Collection of Abstracts, Department of Food Hygiene, Faculty of Veterinary Medicine, SLU, Uppsala / [ed] Marie-Louise Danielsson-Tham och Wilhelm Tham, Uppsala: Dep of Food Hygiene, Faculty of Veterinary Medicine, SLU , 2000, p. 28-28Conference paper (Refereed)
  • 42.
    Walum, Hasse
    et al.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Larsson, Henrik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Westberg, Lars
    Department of Pharmacology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
    Lichtenstein, Paul
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Magnusson, Patrik K. E.
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
    Sex differences in jealousy: a population-based twin study in Sweden2013In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 16, no 5, p. 941-946Article in journal (Refereed)
    Abstract [en]

    According to the theory of evolved sex differences in jealousy, the challenge for women to ensure paternal investment increased their jealousy response to emotional infidelity, whereas paternal uncertainty exerted selective pressures that shaped men to become more distressed by sexual infidelity. Several studies have investigated whether the effect of these sexually dimorphic selection pressures can be detected in contemporary human populations, with conflicting results. To date, no genetically informed studies of sex differences in jealousy have been conducted. We used data from the Screening Across the Lifespan of Twins Younger (SALTY) sample, containing information concerning self-rated jealousy from 3,197 complete twin pairs collected by the Swedish Twin Registry. Intra-class correlations and structural equation models were used to assess the genetic influence on jealousy and to investigate sex differences at genetic level. We saw a highly significant sex effect on the relationship between infidelity types, indicating that men, relative to women, reported greater jealousy in response to sexual infidelity than in response to emotional infidelity. The twin models revealed significant heritabilities for both sexual (32%) and emotional (26%) jealousy. The heritabilities were of a similar magnitude in both sexes, and no qualitative sex differences could be detected. We show for the first time that variance in jealousy is to some extent explained by genetic factors. Even though our results from the mean value analyses are in line with the theory of evolved sex differences in jealousy, we could not identify any sex differences on a genetic level.

  • 43.
    Wittenburg, Dörte
    et al.
    Institute for Genetics and Biometry, Unit Biomathematics and Bioinformatics, Leibniz Institute for Farm Animal Biology, Dummerstorf, Germany .
    Melzer, Nina
    Institute for Genetics and Biometry, Unit Biomathematics and Bioinformatics, Leibniz Institute for Farm Animal Biology, Dummerstorf, Germany .
    Willmitzer, Lothar
    Max Planck Institute for Molecular Plant Physiology, Potsdam-Golm, Germany.
    Lisec, Jan
    Max Planck Institute for Molecular Plant Physiology, Potsdam-Golm, Germany.
    Kesting, U
    Landeskontrollverband für Leistungs, Qualitätsprüfung Mecklenburg-Vorpommern e.V. (LKV), Güstrow, Germany .
    Reinsch, Norbert
    Institute for Genetics and Biometry, Unit Biomathematics and Bioinformatics, Leibniz Institute for Farm Animal Biology, Dummerstorf, Germany .
    Repsilber, Dirk
    Institute for Genetics and Biometry, Unit Biomathematics and Bioinformatics, Leibniz Institute for Farm Animal Biology, Dummerstorf, Germany .
    Milk metabolites and their genetic variability2013In: Journal of Dairy Science, ISSN 0022-0302, E-ISSN 1525-3198, Vol. 96, no 4, p. 2557-69Article in journal (Refereed)
    Abstract [en]

    The composition of milk is crucial to evaluate milk performance and quality measures. Milk components partly contribute to breeding scores, and they can be assessed to judge metabolic and energy status of the cow as well as to serve as predictive markers for diseases. In addition to the milk composition measures (e.g., fat, protein, lactose) traditionally recorded during milk performance test via infrared spectroscopy, novel techniques, such as gas chromatography-mass spectrometry, allow for a further analysis of milk into its metabolic components. Gas chromatography-mass spectrometry is suitable for measuring several hundred metabolites with high throughput, and thus it is applicable to study sources of genetic and nongenetic variation of milk metabolites in dairy cows. Heritability and mode of inheritance of metabolite measurements were studied in a linear mixed model approach including expected (pedigree) and realized (genomic) relationship between animals. The genetic variability of 190 milk metabolite intensities was analyzed from 1,295 cows held on 18 farms in Mecklenburg-Western Pomerania, Germany. Besides extensive pedigree information, genotypic data comprising 37,180 single nucleotide polymorphism markers were available. Goodness of fit and significance of genetic variance components based on likelihood ratio tests were investigated with a full model, including marker- and pedigree-based genetic effects. Broad-sense heritability varied from zero to 0.699, with a median of 0.125. Significant additive genetic variance was observed for highly heritable metabolites, but dominance variance was not significantly present. As some metabolites are particularly favorable for human nutrition, for instance, future research should address the identification of locus-specific genetic effects and investigate metabolites as the molecular basis of traditional milk performance test traits.

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