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A Journal on Sports Medicine

Official Journal of the Italian Sports Medicine Federation
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Medicina dello Sport 2016 June;69(2):240-8


language: English, Italian

Genotype distribution and allele frequencies of the ACTN3 R577X gene polymorphism in China

Ruoyu YANG 1, 2, Xunzhang SHEN 3, Yubin WANG 1, 4, Guang CAI 3, Yongnan FU 5, Wangyu XU 3

1 School of Kinesiology, Shanghai University of Sport, Shanghai, China; 2 Huangpu Guidance Centre of Sport Developing (Research Station of Sport Science), Shanghai, China; 3 Shanghai Research Institute of Sport Science, Shanghai, China; 4 Shanghai East Hospital, Shanghai, China; 5 Dongdong Institute of Medical Research, Shanghai, China


BACKGROUND: The ACTN3 gene polymorphism (rs1815739) has been identified as one of the most important genetic variations in physical performance, especially in power performance. The main aim of the present study was to investigate the genotype distribution and the allele frequencies of the ACTN3 R577X polymorphism in Chinese elite athletes and to study the influence of ACTN3 R577X variation on the same subjects.
METHODS: Our study involved 102 elite athletes, and 150 healthy controls of Chinese Han nationality. Genomic DNA was extracted from the mouth mucosa of participants and genotyping was conducted by multiplex SNaPshot technology.
RESULTS: The genotype distribution and the allele frequencies of elite athletes were found to be significantly different from the group of controls. Furthermore, the elite athletes were divided into power and endurance athletes according to the characteristic of the sport. The genotype distribution of power athletes was significantly different from endurance athletes and controls. The allele frequencies of power athletes were significantly different from that of endurance athletes and controls.
CONCLUSIONS: The present study shows that the XX genotype is disadvantageous for power performance and the ACTN3 R577X polymorphism is associated with the elite athletic status, especially with power performance in Chinese athletes.

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