Key result
The X allele (RX and XX genotypes) of the ACTN3 R577X polymorphism was significantly associated with sport climbing status across three different ethnicities (OR 1.49).
Why the study?
The study aimed to investigate ACTN3 R577X, ACE I/D, CKM rs8111989, and TRHR rs7832552 genotypes in climbers and controls across three ethnicities.
Case-Control (n=1,409)
Yes
The X allele of the ACTN3 R577X polymorphism is associated with sport climbing status across three different ethnicities.
Supports genetic contribution to climbing performance; extends ACTN3 associations across ethnicities but remains hypothesis-generating.
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 metaanalysis 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.
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Saito et al. (2021) conducted a case-control in Sport climbing status (n=1,409). ACTN3 R577X polymorphism (X allele) vs. Controls without sport climbing status was evaluated on Association of ACTN3 R577X polymorphism (XX + RX genotypes) with sport climbing status (OR 1.49, 95% CI 1.08-2.04, p=0.01). The X allele (RX and XX genotypes) of the ACTN3 R577X polymorphism was significantly associated with sport climbing status across three different ethnicities (OR 1.49).
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