Genetic profile of sports climbing athletes from three different ethnicities

Saito, Mika;Ginszt, Michał;Semenova, Ekaterina A;Massidda, Myosotis;Huminska-Lisowska, Kinga;Michałowska-Sawczyn, Monika;Homma, Hiroki;Cięszczyk, Paweł;Okamoto, Takanobu;Larin, Andrey K;Generozov, Edward V;Majcher, Piotr;Nakazato, Koichi;Ahmetov, Ildus I;Kikuchi, Naoki

2022-01-01

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Abstract

This study aimed to investigate the ACTN3 R577X, ACE I/D, CKM rs8111989, and TRHR rs7832552 genotypes in climbers and controls in three ethnicities. The study consisted of 258 climbers (Japanese, n = 100; Polish, n = 128; Russian, n = 30) and 1151 controls (Japanese: n = 332, Polish: n = 635, Russian: n = 184). Genotyping results were analyzed using the TaqMan approach in Japanese and Polish subjects and HumanOmni1-Quad Bead Chips in Russian subjects. There were no significant differences in ACTN3 R577X and ACE I/D polymorphism distribution between climbers and controls in any ethnic cohort or model. The frequencies of the C allele in the CKM polymorphism and the T allele in the TRHR polymorphism were higher in climbers than in controls only in the Russian cohort (p = 0.045 and p = 0.039, respectively). The results of the meta-analysis on three cohorts showed that the frequency of XX + RX genotypes in the ACTN3 R577X polymorphism was significantly higher in climbers than that in the controls (p = 0.01). The X allele of the ACTN3 R577X polymorphism was associated with sport climbing status, as assessed using a meta-analysis of climbers across three different ethnicities.