AVPR1A – Autism Spectrum Disorder

AVPR1A, encoding the vasopressin receptor 1A, is implicated in social behavior regulation and has been investigated in autism spectrum disorder (ASD). Three independent family‐based association studies totaling 467 ASD probands/families demonstrated transmission disequilibrium of promoter SNPs (rs7294536, rs10877969) and microsatellites (RS1, RS3, AVR) in AVPR1A under additive and dominant models, correlating genotypes with socialization deficits and repetitive behaviors (467 families PMID:20546835; PMID:16520824; PMID:28808521). However, no rare high-penetrance or segregating variants have been identified, and inheritance appears polygenic without Mendelian segregation.

Functional assays in neuronal cell models revealed that shorter RS1 and RS3 alleles decrease AVPR1A promoter activity, and rs7294536 alleles differentially bind Nf-κB, providing a plausible mechanism for expression modulation and ASD risk (PMID:21453499; PMID:28808521). Despite consistent association and mechanistic insights, absence of segregation and animal model data limits clinical validity.

Key take-home: AVPR1A promoter variants show reproducible association and functional effects in ASD, suggesting potential targets for therapeutic modulation.

References

• Neuroscience letters | 2010 | Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders. PMID:20546835
• Molecular psychiatry | 2006 | Association between the arginine vasopressin 1a receptor (AVPR1a) gene and autism in a family-based study: mediation by socialization skills. PMID:16520824
• Molecular autism | 2011 | Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism. PMID:21453499
• Molecular autism | 2017 | Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population. PMID:28808521

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