Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills.
Abstract
We examined three microsatellites in the arginine vasopressin 1a receptor gene (AVPR1a), two in the promoter region (RS1 and RS3) and an intronic microsatellite (AVR), for association with autism as well as scores on the Vineland Adaptive Behavior Scale (VABS), the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Scale-Generic (ADOS-G), measures that are widely used to diagnose autism spectrum disorders. We tested for association between the AVPR1a microsatellites and autism in 116 families (128 probands diagnosed with the ADI-R and ADOS-G using a family-based association test (UNPHASED)). Testing each individual microsatellite showed significant transmission disequilibrium in these families with the AVR intronic microsatellite (UNPHASED: LRS=11.46, global P-value=0.009, df=3). Haplotype analysis of three microsatellites also showed significant association (LRS=144.94, df=103, global P=0.004). Additionally, significant association is observed between these three microsatellite haplotypes and the VABS scores (P=0.009), with the ADI-R (P=0.009) and the ADOS-G (P=0.0000765) diagnoses of autistic disorder versus pervasive developmental disorder-not otherwise specified (PDD-NOS) that were available for 47 of these probands. This is the third consecutive report of an association between the AVPR1a gene and autism spectrum disorders and in the current study a third microsatellite is shown to be associated with autism spectrum disorders as well as haplotypes consisting of all three markers. Importantly, the association appears to be mainly mediated by the role of the AVPR1a gene in shaping socialization skills, similar to its role in lower vertebrates.Molecular Psychiatry (2006) 11, 488-494. doi:10.1038/sj.mp.4001812; published online 7 March 2006.
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The AVPR1a and oxytocin receptor (OXTR) genes contribute to autism spectrum disorders (ASD).
“In addition to their roles in enhancing social behaviors, the AVPR1a and oxytocin receptor (OXTR) genes have been shown by us [25], [26] and others [27]–[30] to contribute to autism spectrum disorders (ASD), a behavioral disorder characterized by deficits in social communication and bonding.”
From The oxytocin receptor (OXTR) contributes to prosocial fund allocations in the dictator game and the social value orientations task (2009) · cites this paper as [26]
AVPR1A polymorphisms specifically mediated socialization skills in subjects with ASD.
“One of these studies found that AVPR1A polymorphisms specifically, mediated socialization skills in the subjects with ASD [49].”
From The prairie vole: An emerging model organism for understanding the social brain (2010) · cites this paper as [49]
There have been three independent reports of a genetic association between polymorphisms in the human AVPR1A and symptoms of ASD.
“In addition, there have now been three independent reports of a genetic association between these polymorphisms in the human AVPR1A and symptoms of ASD [47–49].”
From The prairie vole: An emerging model organism for understanding the social brain (2010) · cites this paper as [49]
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- Authors
- Yirmiya, N., Rosenberg, C., Levi, S., Salomon, S., Shulman, C., Nemanov, L., Dina, C., & Ebstein, R. P.
- Affiliations
- Hebrew University of Jerusalem (IL)
- Herzog Hospital (IL)
- Corresponding author
- Ebstein, R P
- Venue
- Molecular Psychiatry
- Published
- 2006-03-07
- Volume
- 11
- Issue
- 5
- Pages
- 488-494
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W2053346497
- Cited by
- 232
- References
- 23
- Citations by year
- 2026: 3 · 2025: 5 · 2024: 6 · 2023: 8 · 2022: 2 · 2021: 12 · 2020: 9 · 2019: 8 · 2018: 5 · 2017: 10 · 2016: 9 · 2015: 11 · 2014: 19 · 2013: 10 · 2012: 18
- FWCI
- 9.55
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Israel Academy of Sciences and Humanities
- Israel Science Foundation
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- AVPR1A, autism spectrum disorder, microsatellite markers, transmission disequilibrium, haplotype association, socialization skills, adaptive behavior, pervasive developmental disorder not otherwise specified, genetic association
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Female, Humans, Male, Neuropsychological Tests, Pedigree, Reference Values, Severity of Illness Index, Social Adjustment, Social Behavior, Linkage Disequilibrium, Case-Control Studies, Receptors, Vasopressin, Microsatellite Repeats
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