title: Association study between single nucleotide polymorphisms in promoter region of AVPR1A and Korean autism spectrum disorders.
abstract: 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, 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.
authors.affiliation: 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.
authors.forename: So Young
authors.initials: SY
authors.lastname: Yang
authors.forename: Soo-Churl
authors.initials: SC
authors.lastname: Cho
authors.forename: Hee Jeong
authors.initials: HJ
authors.lastname: Yoo
authors.forename: In Hee
authors.initials: IH
authors.lastname: Cho
authors.forename: Mira
authors.initials: M
authors.lastname: Park
authors.forename: Boong-Nyun
authors.initials: BN
authors.lastname: Kim
authors.forename: Jae-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Min-Sup
authors.initials: MS
authors.lastname: Shin
authors.forename: Tae-Won
authors.initials: TW
authors.lastname: Park
authors.forename: Jung-Woo
authors.initials: JW
authors.lastname: Son
authors.forename: Un-Sun
authors.initials: US
authors.lastname: Chung
authors.forename: Hyo-Won
authors.initials: HW
authors.lastname: Kim
authors.forename: Young-Hui
authors.initials: YH
authors.lastname: Yang
authors.forename: Je-Ouk
authors.initials: JO
authors.lastname: Kang
authors.forename: Soon Ae
authors.initials: SA
authors.lastname: Kim
mesh_terms: D044466:Asian People; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007723:Korea; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017483:Receptors, Vasopressin / Q000235:genetics*
chemical_list: D017483:Receptors, Vasopressin