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Association of the Catechol-o-Methyltransferase Gene Polymorphisms with Korean Autism Spectrum Disorders
Authors:Hee Jeong Yoo  In Hee Cho  Mira Park  So Young Yang  Soon Ae Kim
Affiliation:1.Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Korea.;2.Department of Psychiatry, Gachon University Gil Medical Center, Incheon, Korea.;3.Department of Preventive Medicine, School of Medicine, Eulji University, Daejeon, Korea.;4.Department of Pharmacology, Chungnam National University College of Pharmacy, Daejeon, Korea.;5.Department of Pharmacology, School of Medicine, Eulji University, Daejeon, Korea.
Abstract:This study evaluated the family-based genetic association between autism spectrum disorders (ASDs) and 5 single-nucleotide polymorphisms (SNPs) in the catechol-o-methyltransferase gene (COMT), which was found among 151 Korean ASDs family trios (dominant model Z = 2.598, P = 0.009, PFDR = 0.045). We found a statistically significant allele transmission or association in terms of the rs6269 SNP in the ASDs trios. Moreover, in the haplotype analysis, the haplotypes with rs6269 demonstrated significant evidence of an association with ASDs (additive model rs6269-rs4818-rs4680-rs769224 haplotype P = 0.004, PFDR = 0.040). Thus, an association may exist between the variants of the COMT gene and the occurrence of ASDs in Koreans.
Keywords:Autism Spectrum Disorders (ASD)   Polymorphisms   Single Nucleotide (SNPs)   Catechol-O-Methyltransferase Gene (COMT)   Family-Based Association Study
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