Family-based association study between NOS-I and -IIA polymorphisms and autism spectrum disorders in Korean trios


  • Please cite this article as follows: Kim HW, Cho SC, Kim JW, Cho IH, Kim SA, Park M, Cho EJ, Yoo HJ. 2009. Family-Based Association Study Between NOS-I and -IIA Polymorphisms and Autism Spectrum Disorders in Korean Trios. Am J Med Genet Part B 150B:300–306.


Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component and environmental risk factors. Nitric oxide (NO), which is produced by nitric oxide synthase (NOS), may play a role in the development of ASD. We genotyped nine single nucleotide polymorphisms (SNPs) in the NOS-I gene and nine SNPs in the NOS-IIA gene and carried out the transmission disequilibrium test (TDT) and haplotype analysis in 151 Korean ASD trios. We found preferential transmission of the A allele of rs8068149 (P = 0.039) and G allele of rs1060826 (P = 0.035) of NOS-IIA in ASD and the haplotype analysis revealed that the two haplotypes had significant associations (P = 0.014 and 0.031, respectively). The behavioral subdomain score of failure to use nonverbal behaviors to regulate social interaction in Autism Diagnostic Interview-Revised (ADI-R) was significantly higher in subjects with the GG or AG allele in rs1060826 of NOS-IIA compared to those who had the AA allele (P = 0.027). These results provide significant but weak evidence for an association between NOS-IIA and ASD in the Korean population. © 2008 Wiley-Liss, Inc.