육상투척 선수군에서 ACTN3 유전자의 R577X 다형성과 COMT 유전자의 Val158Met 다형성의 분포

Abstract

The aim of this study was to compare the genotype and allele distributions of the R577X(C1747T, rs1815739) polymorphism in α-actinin 3(ACTN3) gene and the Val158Met(G/A, rs4680) polymorphism in catechol-O-methyltransferase(COMT) gene between controls and athletes of throwing event in order to search for the useful genetic marker(s) influencing the athletic performance of throwing event. On the whole, seventy eight individuals were included in this study, and they grouped in controls(n=55) and throwers(n=23), respectively. Total genomic DNA was isolated from all subjects, and two genetic polymorphisms in each gene were assayed by SNaPshot method. In the case of the Val158Met polymorphism in COMT gene, there were no significant differences in genotype and allele distributions between controls and throwers, respectively. But, there were the significant differences in both genotype and allele frequencies of the R577X polymorphism in ACTN3 gene between two groups, respectively(p .05). Especially, the frequencies of RR genotype and R allele in this genetic polymorphism were overrepresented in throwers compared to controls, respectively. Thus, these results suggest that the R577X polymorphism in ACTN3 gene is likely to significantly influence the athletic performance of throwing event in at least Koreans. Because the genotype and allele frequencies of each genetic polymorphism can vary by ethnicity with different genetic bacjground, further studies by using other ethnic groups will be needed to replicate our positive association study result observed in the R577X polymorphism of ACTN3 gene.