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  • 1.
    Larsson, Mats
    Örebro universitet, Institutionen för beteende-, social- och rättsvetenskap.
    Human iris characteristics as biomarkers for personality2007Doktoravhandling, med artikler (Annet vitenskapelig)
    Abstract [en]

    This dissertation explains why behavioral genetic research can be better informed by using characteristics in the human iris as biomarkers for personality, and is divided into five parts. Part I gives an introduction to the classical twin method and an overview of the findings that have led most developmental researchers to recognize that the normal variation of personality depends on a complex interplay between genetic and environmental factors. Part II highlights empirical findings that during the last twenty years have gradually moved genetic and environmental theory and research to evolve toward one another, and also presents the theory of genetics and experience that currently is used to explain how the interplay between genes and the environment works. Part III explains why, from a developmental perspective, it is of interest to identify candidate genes for personality, and gives a brief overview of genes that have been associated with personality. Problems associated with genetic research on the molecular level and how these apply to personality are also highlighted. Part IV examines molecular research on the iris and the brain, which suggests that genes expressed in the iris could be associated with personality, and explains how the use of iris characteristics can increase power to test candidate genes for personality by taking advantage of the self-organizing properties of the nervous system. The empirical foundation for the questions posed in this dissertation and also the empirical results are presented here. Part V discusses the associations found between iris characteristics and personality, and exemplifies how iris characteristics can be used within the theoretical frameworks presented in parts I, II, III and IV. In other words, Part V explains how iris characteristics – in addition to identify as well as test candidate genes for personality – can be used to investigate how people’s experiences in themselves are influenced by genetic factors.

    Delarbeid
    1. Importance of genetic effects for characteristics of the human iris
    Åpne denne publikasjonen i ny fane eller vindu >>Importance of genetic effects for characteristics of the human iris
    2003 (engelsk)Inngår i: Twin research, ISSN 1369-0523, E-ISSN 2053-6003, Vol. 6, nr 3, s. 192-200Artikkel i tidsskrift (Fagfellevurdert) Published
    Abstract [en]

    The relative importance of genetic influences (heritability) on five general textural quality characteristics of the human iris was assessed using sex and age limitation models. Colour photographs of irises were available from 100 monozygotic twin pairs, 99 dizygotic twin pairs, and 99 unrelated randomly paired age-matched German subjects. Comparative scales were constructed and two judges who were blind to zygosity independently rated five characteristic of the subjects' left iris. Inter-rater reliabilities were larger than .90 for all five scales. The heritabilities for the five iris characteristics ranged from .51-.90. No sex-specific genetic factors were found for the iris characteristics. Age-group differences in heritability were found for one of the five iris characteristics — "distinction of white dot rings". Heritability was greater for the older cohort (90%) than the younger (73%). The iris characteristics that showed the next highest additive-genetic effect were "contractional furrows" (78%) and "frequency of crypts" in the main stroma leaf (66%).

    HSV kategori
    Forskningsprogram
    Psykologi
    Identifikatorer
    urn:nbn:se:oru:diva-2856 (URN)10.1375/136905203765693843 (DOI)
    Tilgjengelig fra: 2007-11-23 Laget: 2007-11-23 Sist oppdatert: 2017-12-14bibliografisk kontrollert
    2. Genetic correlations among texture characteristics in the human iris
    Åpne denne publikasjonen i ny fane eller vindu >>Genetic correlations among texture characteristics in the human iris
    2004 (engelsk)Inngår i: Molecular Vision, ISSN 1090-0535, E-ISSN 1090-0535, Vol. 10, s. 821-831Artikkel i tidsskrift (Fagfellevurdert) Published
    Abstract [en]

    PURPOSE:

    To estimate the magnitude of genetic correlations among five general textural characteristics of the human iris.

    METHODS:

    Color photographs of iris were available from 100 monozygotic and 99 dizygotic twin pairs. Comparative scales were constructed based on ratings of the subjects' left iris. To explore the genetic and environmental covariation among frequency of Fuchs' crypts, frequency of pigment dots, iris color, the extension, and distinction of Wolfflin nodules, and contraction furrows, a structural equation model with Cholesky decomposition was applied to variance-covariance matrices for monozygotic (MZ) and dizygotic (DZ) pairs.

    RESULTS:

    Significant genetic correlations fell between -0.22 and 0.44 and accounted almost entirely for the phenotypic correlations among the iris characteristics. No evidence for individual specific environmental effects in common to the characteristics was found.

    CONCLUSIONS:

    The modest genetic correlations indicate that there is little overlap in the genetic influence for these characteristics. Candidate genes with embryological and histological expression patterns in the eye could potentially influence the iris characteristics' variability.

    HSV kategori
    Forskningsprogram
    Psykologi
    Identifikatorer
    urn:nbn:se:oru:diva-2857 (URN)
    Tilgjengelig fra: 2007-11-23 Laget: 2007-11-23 Sist oppdatert: 2017-12-14bibliografisk kontrollert
    3. Associations between iris characteristics and personality in adulthood
    Åpne denne publikasjonen i ny fane eller vindu >>Associations between iris characteristics and personality in adulthood
    2007 (engelsk)Inngår i: Biological Psychology, ISSN 0301-0511, E-ISSN 1873-6246, Vol. 75, nr 2, s. 165-175Artikkel i tidsskrift (Fagfellevurdert) Published
    Abstract [en]

    Variable and person-oriented analyses were used to explore the associations between personality and three previously untested general iris characteristics: crypts, pigment dots and contraction furrows. Personality data, as measured by the NEO PI-R and ratings of iris characteristics from 428 undergraduate students were collected. Crypts were significantly associated with five approach-related behaviors, i.e., feelings, tendermindedness, warmth, trust and positive emotions, whereas furrows were associated with impulsiveness. These findings suggest that because Pax6 induces tissue deficiencies in both the iris and the left anterior cingulate cortex, Pax6 may influence the extent people engage in approach-related behaviors. The results from using a person-oriented analysis suggested that people with different iris configurations tend to develop along different personality trajectories. Future longitudinal studies, twin-studies and genetic association studies, may benefit from collecting iris data and testing candidate genes for crypts and furrows

    HSV kategori
    Forskningsprogram
    Psykologi
    Identifikatorer
    urn:nbn:se:oru:diva-2858 (URN)10.1016/j.biopsycho.2007.01.007 (DOI)
    Tilgjengelig fra: 2007-11-23 Laget: 2007-11-23 Sist oppdatert: 2017-12-14bibliografisk kontrollert
    Fulltekst (pdf)
    FULLTEXT01
  • 2.
    Larsson, Mats
    et al.
    Örebro universitet, Akademin för juridik, psykologi och socialt arbete.
    Duffy, David L.
    Zhu, Gu
    Liu, Jimmy Z.
    Macgregor, Stuart
    McRae, Allan F.
    Wright, Margaret J.
    Sturm, Richard A.
    Mackey, David A.
    Montgomery, Grant W.
    Martin, Nicholas G.
    Medland, Sarah E.
    GWAS Findings for Human Iris Patterns: Associations with Variants in Genes that Influence Normal Neuronal Pattern Development2011Inngår i: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 89, nr 2, s. 334-343Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Human iris patterns are highly variable. The origins of this variation are of interest in the study of iris-related eye diseases and forensics, as well as from an embryological developmental perspective, with regard to their possible relationship to fundamental processes of neurodevelopment. We have performed genome-wide association scans on four iris characteristics (crypt frequency, furrow contractions, presence of peripupillary pigmented ring, and number of nevi) in three Australian samples of European descent. Both the discovery (n = 2121) and replication (n = 499 and 73) samples showed evidence for association between (1) crypt frequency and variants in the axonal guidance gene SEMA3A (p = 6.6 x 10(-11)), (2) furrow contractions and variants within the cytoskeleton gene TRAF3IP1 (p = 2.3 x 10(-12)), and (3) the pigmented ring and variants in the well-known pigmentation gene SLC24A4 (p = 7.6 x 10(-21)). These replicated findings individually accounted for around 1.5%-3% of the variance for these iris characteristics. Because both SEMA3A and TRAFIP1 are implicated in pathways that control neurogenesis, neural migration, and synaptogenesis, we also examined the evidence of enhancement among such genes, finding enrichment for crypts and furrows. These findings suggest that genes involved in normal neuronal pattern development may also influence tissue structures in the human iris.

  • 3.
    Larsson, Mats
    et al.
    Örebro universitet, Institutionen för beteende-, social- och rättsvetenskap.
    Pedersen, Nancy L.
    Genetic correlations among texture characteristics in the human iris2004Inngår i: Molecular Vision, ISSN 1090-0535, E-ISSN 1090-0535, Vol. 10, s. 821-831Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    PURPOSE:

    To estimate the magnitude of genetic correlations among five general textural characteristics of the human iris.

    METHODS:

    Color photographs of iris were available from 100 monozygotic and 99 dizygotic twin pairs. Comparative scales were constructed based on ratings of the subjects' left iris. To explore the genetic and environmental covariation among frequency of Fuchs' crypts, frequency of pigment dots, iris color, the extension, and distinction of Wolfflin nodules, and contraction furrows, a structural equation model with Cholesky decomposition was applied to variance-covariance matrices for monozygotic (MZ) and dizygotic (DZ) pairs.

    RESULTS:

    Significant genetic correlations fell between -0.22 and 0.44 and accounted almost entirely for the phenotypic correlations among the iris characteristics. No evidence for individual specific environmental effects in common to the characteristics was found.

    CONCLUSIONS:

    The modest genetic correlations indicate that there is little overlap in the genetic influence for these characteristics. Candidate genes with embryological and histological expression patterns in the eye could potentially influence the iris characteristics' variability.

  • 4.
    Larsson, Mats
    et al.
    Örebro universitet, Institutionen för beteende-, social- och rättsvetenskap.
    Pedersen, Nancy L.
    Stattin, Håkan
    Örebro universitet, Institutionen för beteende-, social- och rättsvetenskap.
    Associations between iris characteristics and personality in adulthood2007Inngår i: Biological Psychology, ISSN 0301-0511, E-ISSN 1873-6246, Vol. 75, nr 2, s. 165-175Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Variable and person-oriented analyses were used to explore the associations between personality and three previously untested general iris characteristics: crypts, pigment dots and contraction furrows. Personality data, as measured by the NEO PI-R and ratings of iris characteristics from 428 undergraduate students were collected. Crypts were significantly associated with five approach-related behaviors, i.e., feelings, tendermindedness, warmth, trust and positive emotions, whereas furrows were associated with impulsiveness. These findings suggest that because Pax6 induces tissue deficiencies in both the iris and the left anterior cingulate cortex, Pax6 may influence the extent people engage in approach-related behaviors. The results from using a person-oriented analysis suggested that people with different iris configurations tend to develop along different personality trajectories. Future longitudinal studies, twin-studies and genetic association studies, may benefit from collecting iris data and testing candidate genes for crypts and furrows

  • 5.
    Larsson, Mats
    et al.
    Örebro universitet, Institutionen för beteende-, social- och rättsvetenskap.
    Pedersen, Nancy L.
    Stattin, Håkan
    Örebro universitet, Institutionen för beteende-, social- och rättsvetenskap.
    Importance of genetic effects for characteristics of the human iris2003Inngår i: Twin research, ISSN 1369-0523, E-ISSN 2053-6003, Vol. 6, nr 3, s. 192-200Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The relative importance of genetic influences (heritability) on five general textural quality characteristics of the human iris was assessed using sex and age limitation models. Colour photographs of irises were available from 100 monozygotic twin pairs, 99 dizygotic twin pairs, and 99 unrelated randomly paired age-matched German subjects. Comparative scales were constructed and two judges who were blind to zygosity independently rated five characteristic of the subjects' left iris. Inter-rater reliabilities were larger than .90 for all five scales. The heritabilities for the five iris characteristics ranged from .51-.90. No sex-specific genetic factors were found for the iris characteristics. Age-group differences in heritability were found for one of the five iris characteristics — "distinction of white dot rings". Heritability was greater for the older cohort (90%) than the younger (73%). The iris characteristics that showed the next highest additive-genetic effect were "contractional furrows" (78%) and "frequency of crypts" in the main stroma leaf (66%).

  • 6. Sturm, Richard A.
    et al.
    Larsson, Mats
    Örebro universitet, Akademin för juridik, psykologi och socialt arbete.
    Genetics of human iris colour and patterns2009Inngår i: Pigment Cell & Melanoma Research, ISSN 1755-1471, E-ISSN 1755-148X, Vol. 22, nr 5, s. 544-562Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    P>The presence of melanin pigment within the iris is responsible for the visual impression of human eye colouration with complex patterns also evident in this tissue, including Fuchs' crypts, nevi, Wolfflin nodules and contraction furrows. The genetic basis underlying the determination and inheritance of these traits has been the subject of debate and research from the very beginning of quantitative trait studies in humans. Although segregation of blue-brown eye colour has been described using a simple Mendelian dominant-recessive gene model this is too simplistic, and a new molecular genetic perspective is needed to fully understand the biological complexities of this process as a polygenic trait. Nevertheless, it has been estimated that 74% of the variance in human eye colour can be explained by one interval on chromosome 15 that contains the OCA2 gene. Fine mapping of this region has identified a single base change rs12913832 T/C within intron 86 of the upstream HERC2 locus that explains almost all of this association with blue-brown eye colour. A model is presented whereby this SNP, serving as a target site for the SWI/SNF family member HLTF, acts as part of a highly evolutionary conserved regulatory element required for OCA2 gene activation through chromatin remodelling. Major candidate genes possibly effecting iris patterns are also discussed, including MITF and PAX6.

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