한국인 검도 선수군에서 ACTN3 유전자의 R577X 다형성과 5-HTT 유전자의 L/S 다형성의 분포에 관한 연구
Study on the Distributions of R577X Polymorphism in ACTN3 Gene and L/S Polymorphism in 5-HTT Gene of Korean Kendo Players
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초록
According to the results of previous studies, it has been known that the athletic performance is influenced not only by environmental factors but also by genetic factors. In order to search for the useful genetic marker(s) influencing the athletic performance of kendo players, we performed serial genetic epidemiological studies using the R577X(C1747T, rs1815739) polymorphism in ACTN3 gene and L/S polymorphism in 5-HTT gene as genetic markers. A total of 98 unrelated male subjects including controls(n=43) and kendo players(n=55) were participated in this study, and two genetic polymorphisms in these candidate genes were analyzed by using SNaPshot method(the R577X polymorphism in ACTN3 gene) or polymerase chain reaction(PCR) and agarose gel electrophoresis method(L/S polymorphism in 5-HTT gene), respectively. As a results of conducting research, there was the significant differences in both genotype and allele frequencies of the R577X polymorphism in ACTN3 gene between controls and kendo players, respectively(p<.05). Especially, the frequencies of RR genotype and R allele in this genetic polymorphism were overrepresneted in kendo players than in controls, respectively. Thus, the R577X polymorphism in ACTN3 gene may considerably contribute to the genetic background of athletic performance in kendo players. However, because the subjects participated in this study was restricted to only male group, the further study using female kendo players will be necessary.
Abstract
According to the results of previous studies, it has been known that the athletic performance is influenced not only by environmental factors but also by genetic factors. In order to search for the useful genetic marker(s) influencing the athletic performance of kendo players, we performed serial genetic epidemiological studies using the R577X(C1747T, rs1815739) polymorphism in ACTN3 gene and L/S polymorphism in 5-HTT gene as genetic markers. A total of 98 unrelated male subjects including controls(n=43) and kendo players(n=55) were participated in this study, and two genetic polymorphisms in these candidate genes were analyzed by using SNaPshot method(the R577X polymorphism in ACTN3 gene) or polymerase chain reaction(PCR) and agarose gel electrophoresis method(L/S polymorphism in 5-HTT gene), respectively. As a results of conducting research, there was the significant differences in both genotype and allele frequencies of the R577X polymorphism in ACTN3 gene between controls and kendo players, respectively(p<.05). Especially, the frequencies of RR genotype and R allele in this genetic polymorphism were overrepresneted in kendo players than in controls, respectively. Thus, the R577X polymorphism in ACTN3 gene may considerably contribute to the genetic background of athletic performance in kendo players. However, because the subjects participated in this study was restricted to only male group, the further study using female kendo players will be necessary.
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