Examination of AVPR1a as an autism susceptibility gene
| Autor: | Susan E. Folstein, Veronica J. Vieland, Thomas H. Wassink, Rhinda Goedken, Jennifer Pietila, Val C. Sheffield, Joseph Piven |
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| Rok vydání: | 2004 |
| Předmět: |
Proband
Receptors Vasopressin Candidate gene Linkage disequilibrium Genotype Genetic Linkage DNA Mutational Analysis Biology Linkage Disequilibrium Cellular and Molecular Neuroscience medicine Humans Coding region Genetic Predisposition to Disease Heritability of autism Genetic Testing Autistic Disorder Codon Promoter Regions Genetic Molecular Biology Gene Family Health Genetics Language Disorders Polymorphism Genetic Siblings Exons medicine.disease United States Developmental disorder Psychiatry and Mental health Autism Lod Score |
| Zdroj: | Molecular Psychiatry. 9:968-972 |
| ISSN: | 1476-5578 1359-4184 |
| DOI: | 10.1038/sj.mp.4001503 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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