oru.sePublications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Variabillity in noise susceptibility in a Swedish population: the role of 35delG mutation in the Connexin 26 (GJB2) gene
Örebro University, Department of Nursing and Caring Sciences.
Show others and affiliations
2004 (English)In: Audiological Medicine, ISSN 1651-386X, E-ISSN 1651-3835, Vol. 2, no 2, p. 123-130Article in journal (Refereed) Published
Abstract [en]

Although it seems that genetic factors can influence individual susceptibility to noise, still very little is known about the genes or the mechanisms involved. The connexin 26 (Cx26) (GJB2) gene is of particular interest to study in relation to noise, since the gene encodes the gap junction protein Cx26. Noise has a metabolic and mechanical effect on the inner ear and may, therefore, interfere with gap junction channels. In order to investigate whether abnormally high susceptibility to noise induced hearing loss (NIHL) in humans is associated with the common 35delG mutation in the Cx26 gene, 1200 noise‐exposed workers were investigated in Sweden. Using a selection procedure based on audiometric analysis, noise exposure data and questionnaires, noise‐exposed workers were divided into two categories: noise susceptible and noise resistant. There was a correspondence in noise susceptibility between this noise‐exposed population and the international reference ISO Standard 1999. Blood samples were drawn from 245 highly selected male subjects (103 noise susceptible, 112 noise resistant and 30 randomized cases), and genomic DNA was analysed with respect to the Cx26 35delG mutation. The incidence of 35delG carriers among this cohort was determined by multiplex, allele‐specific PCR. Two of the 245 subjects (0.8% ‐ [95% confidence interval 0.1–2.9]) were found to be heterozygous carriers of the 35delG mutation, while the remaining 243 subjects were all non‐carriers. Both the heterozygous carriers were found in the noise susceptible group. Statistical evaluation of the results demonstrated no significant difference in carrier incidence between the noise susceptible and noise resistant individuals in our Swedish noise‐exposed population. In conclusion, there was no support for a major role of Cx26 35delG mutation in explaining the variability in noise susceptibility in this Swedish population.

Place, publisher, year, edition, pages
2004. Vol. 2, no 2, p. 123-130
National Category
Medical and Health Sciences Surgery Otorhinolaryngology Social Work
Research subject
Oto-Rhino-Laryngology; Disability Research
Identifiers
URN: urn:nbn:se:oru:diva-3226DOI: 10.1080/16513860410035854OAI: oai:DiVA.org:oru-3226DiVA, id: diva2:137462
Available from: 2005-01-21 Created: 2005-01-21 Last updated: 2017-12-14Bibliographically approved
In thesis
1. Hearing impairment and deafness: genetic and environmental factors - interactions - consequences : a clinical audiological approach
Open this publication in new window or tab >>Hearing impairment and deafness: genetic and environmental factors - interactions - consequences : a clinical audiological approach
2005 (English)Doctoral thesis, comprehensive summary (Other academic)
Alternative title[sv]
Hörselnedsättning och dövhet : ett kliniskt audiologiskt angreppssätt
Abstract [en]

OBJECTIVES - Hearing impairment (HI) can be due to genetic or environmental factors, e.g. noise. More than 50% of HI cases are thougt to be hereditary. HI can affect social participation in different ways. How serious these problems becomes depends on several factors, for example, the type of social environment the person lives in. The objective of the present study was to point out the importance of studying HI and deafness in a broad perspective, from the molecular - biological level to the psychological - social level and to evaluate how interactions of factors at several levels form the consequences, in a long-term perspective, to witch HI and deafness can lead. MATERIAL AND METHODS - Three different study populations have been used to study the four levels in this study: Papers I - III; 1200 noise-exposed workers (molecular and biological levels), Paper IV; 50 persons with HI since early childhood, with or without a family history of HI (FHHI)(biological, psychological and social level), and in Paper V; 600 persons with early onset of deafness in two counties with differently strong Deaf communities (psychological and social level). RESULTS - The molecular genetic studies (Papers I – III) showed that the combination of smoking and having a mutation in the protective antioxidant system revealed an additional risk for noise induced hearing loss. In Paper IV, only small differences was found between subjects with and without a FHHI. The results in Paper V indicated that differences in the social environment, in terms of the strength of the Deaf community, influence family factors such as marriages, divorces and the number of children born. CONCLUSIONS - Analysing complex issues such as HI and deafness from a medical audiological perspective requires a multi- level approach at several levels. The results indicate that interactions of factors at all four levels form the consequences, in a long-term perspective, to wich HI and deafness can lead. Furthermore, this multi-level approach - here called a clinical audiological approach - is essential when using the ICF framework in audiological rehabilitation/habilitation.

Place, publisher, year, edition, pages
Örebro: Örebro universitetsbibliotek, 2005. p. 81
Series
Örebro Studies in Medicine, ISSN 1652-4063 ; 4
Keyword
Disability studies, hereditary hearing impairment, deafness, noise induced hearing loss, Deaf community, connexin mutations, oxidative stress genes, family history of hearing impairment, audiological rehabilitation, audiological medicine, Handikappforskning
National Category
Social Work Social Sciences Social Sciences
Research subject
Medical Disability Research
Identifiers
urn:nbn:se:oru:diva-94 (URN)91-7668-426-1 (ISBN)
Public defence
2005-02-11, Aulan, B-huset, Universitetssjukhuset, Örebro, 10:00 (English)
Opponent
Supervisors
Available from: 2005-01-21 Created: 2005-01-21 Last updated: 2017-10-18Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full text
By organisation
Department of Nursing and Caring Sciences
In the same journal
Audiological Medicine
Medical and Health SciencesSurgeryOtorhinolaryngologySocial Work

Search outside of DiVA

GoogleGoogle Scholar

doi
urn-nbn

Altmetric score

doi
urn-nbn
Total: 69 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf