Examination of AVPR1a as an autism susceptibility gene

T. H. Wassink, J. Piven, V. J. Vieland, J. Pietila, R. J. Goedken, S. E. Folstein, V. C. Sheffield

Research output: Contribution to journalArticle

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Abstract

Impaired reciprocal social interaction is one of the core features of autism. While its determinants are complex, one biomolecular pathway that clearly influences social behavior is the arginine-vasopressin (AVP) system. The behavioral effects of AVP are mediated through the AVP receptor 1a (AVPR1a), making the AVPR1a gene a reasonable candidate for autism susceptibility. We tested the gene's contribution to autism by screening its exons in 125 independent autistic probands and genotyping two promoter polymorphisms in 65 autism affected sibling pair (ASP) families. While we found no nonconservative coding sequence changes, we did identify evidence of linkage and of linkage disequilibrium. These results were most pronounced in a subset of the ASP families with relatively less severe impairment of language. Thus, though we did not demonstrate a disease-causing variant in the coding sequence, numerous nontraditional disease-causing genetic abnormalities are known to exist that would escape detection by traditional gene screening methods. Given the emerging biological, animal model, and now genetic data, AVPR1a and genes in the AVP system remain strong candidates for involvement in autism susceptibility and deserve continued scrutiny.

Original languageEnglish
Pages (from-to)968-972
Number of pages5
JournalMolecular Psychiatry
Volume9
Issue number10
DOIs
StatePublished - Oct 1 2004

Fingerprint

Autistic Disorder
Arginine Vasopressin
Genes
Siblings
Vasopressin Receptors
Biological Models
Inborn Genetic Diseases
Social Behavior
Linkage Disequilibrium
Interpersonal Relations
Exons
Language
Animal Models

Keywords

  • Candidate gene
  • Language
  • Linkage
  • Linkage disequilibrium
  • Reciprocal social interaction

ASJC Scopus subject areas

  • Molecular Biology
  • Psychiatry and Mental health

Cite this

Wassink, T. H., Piven, J., Vieland, V. J., Pietila, J., Goedken, R. J., Folstein, S. E., & Sheffield, V. C. (2004). Examination of AVPR1a as an autism susceptibility gene. Molecular Psychiatry, 9(10), 968-972. https://doi.org/10.1038/sj.mp.4001503

Examination of AVPR1a as an autism susceptibility gene. / Wassink, T. H.; Piven, J.; Vieland, V. J.; Pietila, J.; Goedken, R. J.; Folstein, S. E.; Sheffield, V. C.

In: Molecular Psychiatry, Vol. 9, No. 10, 01.10.2004, p. 968-972.

Research output: Contribution to journalArticle

Wassink, TH, Piven, J, Vieland, VJ, Pietila, J, Goedken, RJ, Folstein, SE & Sheffield, VC 2004, 'Examination of AVPR1a as an autism susceptibility gene', Molecular Psychiatry, vol. 9, no. 10, pp. 968-972. https://doi.org/10.1038/sj.mp.4001503
Wassink TH, Piven J, Vieland VJ, Pietila J, Goedken RJ, Folstein SE et al. Examination of AVPR1a as an autism susceptibility gene. Molecular Psychiatry. 2004 Oct 1;9(10):968-972. https://doi.org/10.1038/sj.mp.4001503
Wassink, T. H. ; Piven, J. ; Vieland, V. J. ; Pietila, J. ; Goedken, R. J. ; Folstein, S. E. ; Sheffield, V. C. / Examination of AVPR1a as an autism susceptibility gene. In: Molecular Psychiatry. 2004 ; Vol. 9, No. 10. pp. 968-972.
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