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, 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.
Yang
So Young
SY
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.
Cho
Soo-Churl
SC
Yoo
Hee Jeong
HJ
Cho
In Hee
IH
Park
Mira
M
Kim
Boong-Nyun
BN
Kim
Jae-Won
JW
Shin
Min-Sup
MS
Park
Tae-Won
TW
Son
Jung-Woo
JW
Chung
Un-Sun
US
Kim
Hyo-Won
HW
Yang
Young-Hui
YH
Kang
Je-Ouk
JO
Kim
Soon Ae
SA
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*
D017483:Receptors, Vasopressin