Cited by 212Autism Spectrum Disorder ResearchNeuroendocrine regulation and behaviorGenetics and Neurodevelopmental Disorders

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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·2004·Molecular Psychiatry

DOI 10.1038/sj.mp.4001503

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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.

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Authors: Wassink, T. H., Piven, J., Vieland, V. J., Pietila, J., Goedken, R. J., Folstein, S. E., & Sheffield, V. C.
Affiliations: University of Iowa (US)
University of North Carolina at Chapel Hill (US)
Tufts University (US)
Corresponding author: Wassink, T H
ORCID: Wassink, T H
Piven, J
Vieland, V J
Sheffield, V C
Venue: Molecular Psychiatry
Publisher: Springer Science and Business Media LLC
Published: 2004-04-06
Volume: 9
Issue: 10
Pages: 968-972
ISSN: 1359-4184 (ISSN-L)
1476-5578
DOI: 10.1038/sj.mp.4001503
OpenAlex: W2051055980
Cited by: 212
References: 21
Citations by year: 2026: 3 · 2025: 5 · 2024: 2 · 2023: 4 · 2022: 1 · 2021: 12 · 2020: 5 · 2019: 6 · 2018: 4 · 2017: 5 · 2016: 8 · 2015: 5 · 2014: 16 · 2013: 11 · 2012: 14
FWCI: 8.06
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
Locations: Molecular Psychiatry (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Neuroscience › Endocrine and Autonomic Systems › Neuroendocrine regulation and behavior
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: AVPR1A, autism susceptibility, autism spectrum disorder, reciprocal social interaction, linkage analysis, linkage disequilibrium, promoter polymorphism, language impairment, genetic risk
MeSH terms: Autistic Disorder, Codon, DNA Mutational Analysis, Exons, Family Health, Genetic Testing, Genotype, Humans, Language Disorders, Genetic Linkage, Lod Score, Polymorphism, Genetic, Promoter Regions, Genetic, United States, Linkage Disequilibrium, Receptors, Vasopressin, Genetic Predisposition to Disease, Siblings

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Examination of AVPR1a as an autism susceptibility gene

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