Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders

To determine the association between arginine vasopressin receptor 1A gene (AVPR1A) and autism spectrum disorders (ASDs), we examined 3 single nucleotide polymorphisms (SNPs), namely, rs7294536, rs3759292, and rs10877969, in the promoter region of AVPR1A by using a family-based association test (FBAT) in 151 Korean trios. Our results demonstrated a statistically significant association between autism and SNPs (additive model: rs7294536, χ2 = 9.328, df = 2, P = 0.002; rs10877969, χ2 = 11.529, df = 2, P < 0.001) as well as between autism and haplotype analysis (additive model: χ2 = 14.122, df = 3, P = 0.003). In addition, we found that ADI-R scores calculated by using a diagnostic algorithm for failure to develop peer relationships (A2) were higher in subjects having the AA genotype than in subjects having the AG and GG genotypes of rs7294536. Thus, our study provides evidence for a possible association between these SNPs and the phenotype of ASDs.