J Korean Med Sci.  2013 Sep;28(9):1403-1406. 10.3346/jkms.2013.28.9.1403.

Association of the Catechol-o-Methyltransferase Gene Polymorphisms with Korean Autism Spectrum Disorders

• Yoo HJ
• Cho IH
• Park M
• Yang SY
• Kim SA

• KMID: 1793061
• DOI: http://doi.org/10.3346/jkms.2013.28.9.1403

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.

Keyword

Autism Spectrum Disorders (ASD); Polymorphisms, Single Nucleotide (SNPs); Catechol-O-Methyltransferase Gene (COMT); Family-Based Association Study

MeSH Terms

Alleles
Asian Continental Ancestry Group/*genetics
Catechol O-Methyltransferase/*genetics
Child
Child Development Disorders, Pervasive/diagnosis/*genetics
Child, Preschool
Female
Genotype
Haplotypes
Humans
Linkage Disequilibrium
Male
*Polymorphism, Single Nucleotide
Republic of Korea
Catechol O-Methyltransferase

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