• So Young Yang, Soo-Churl Cho, Hee Jeong Yoo, In Hee Cho, Mira Park, Boong-Nyun Kim, Jae-Won Kim, Min-Sup Shin, Tae-Won Park, Jung-Woo Son, Un-Sun Chung, Hyo-Won Kim, Young-Hui Yang, Je-Ouk Kang, and Soon A... more e Kim. less
• Department of Pharmacology and Eulji University Medical Sciences Research Center, School of Medicine, Eulji University, 143-5 Yongdu-dong, Jung-gu, Daejeon 301-746, Republic of Korea.
• Neurosci. Lett. 2010 Aug 2; 479 (3): 197-200.

AbstractTo 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, chi(2)=9.328, df=2, P=0.002; rs10877969, chi(2)=11.529, df=2, P<0.001) as well as between autism and haplotype analysis (additive model: chi(2)=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.Copyright 2010 Elsevier Ireland Ltd. All rights reserved.

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