title: Association of the catechol-o-methyltransferase gene polymorphisms with Korean autism spectrum disorders.
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, P FDR = 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, P FDR = 0.040). Thus, an association may exist between the variants of the COMT gene and the occurrence of ASDs in Koreans.
authors.affiliation: Department of Psychiatry, Seoul National University Bundang Hospital, Seongnam, Korea.
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: So Young
authors.initials: SY
authors.lastname: Yang
authors.forename: Soon Ae
authors.initials: SA
authors.lastname: Kim
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea
chemical_list: D002394:Catechol O-Methyltransferase
keywords: Autism Spectrum Disorders (ASD); Catechol-O-Methyltransferase Gene (COMT); Family-Based Association Study; Polymorphisms, Single Nucleotide (SNPs)