Kozuma Ayumu, Bulgay Celal, Zempo Hirofumi, Saito Mika, Deguchi Minoru, Homma Hiroki, Matsumoto Shingo, Matsumoto Ryutaro, Kasakolu Anıl, Kazan Hasan H, Bıyıklı Türker, Koncagül Seyrani, Baydaş Giyasettin, Ergun Mehmet A, Szabo Attila, Semenova Ekaterina A, Larin Andrey K, Kulemin Nikolay A, Generozov Edward V, Okamoto Takanobu, Nakazato Koichi, Ahmetov Ildus I, Kikuchi Naoki
Graduate School of Health and Sport Science, Nippon Sport Science University, Tokyo 158-8508, Japan.
Sports Science Faculty, Bingöl University, Bingöl 12000, Türkiye.
Genes (Basel). 2025 Jul 29;16(8):906. doi: 10.3390/genes16080906.
In recent years, comprehensive analyses using a genome-wide association study (GWAS) have been conducted to identify genetic factors related to athletic performance. In this study, we investigated the association between genetic variants and elite wrestling status across multiple ethnic groups using a genome-wide genotyping approach.
This study included 168 elite wrestlers (64 Japanese, 67 Turkish, and 36 Russian), all of whom had competed in international tournaments, including the Olympic Games. Control groups consisted of 306 Japanese, 137 Turkish, and 173 Russian individuals without elite athletic backgrounds. We performed a GWAS comparing allele frequencies of single-nucleotide polymorphisms (SNPs) between elite wrestlers and controls in each ethnic cohort. Cross-population analysis comprised (1) identifying SNPs with nominal significance ( < 0.05) in all three groups, then (2) meta-analyzing overlapped SNPs to assess effect consistency and combined significance. Finally, we investigated whether the most significant SNPs were associated with gene expression in skeletal muscle in 23 physically active men.
The GWAS identified 328,388 (Japanese), 23,932 (Turkish), and 30,385 (Russian) SNPs reaching nominal significance. Meta-analysis revealed that the rs6502758 and rs265061 polymorphisms were associated ( < 0.0001) with elite wrestling status across all three populations. Both variants are located in intronic regions and influence the expression of their respective genes in skeletal muscle.
This is the first study to investigate gene polymorphisms associated with elite wrestling status in a multi-ethnic cohort. rs6502758 and rs265061 polymorphisms may represent important genetic factors associated with achieving an elite status in wrestling, irrespective of ethnicity.
近年来，已开展全基因组关联研究（GWAS）进行综合分析，以确定与运动表现相关的遗传因素。在本研究中，我们采用全基因组基因分型方法，调查了多个种族群体中基因变异与精英摔跤状态之间的关联。
本研究纳入了168名精英摔跤运动员（64名日本人、67名土耳其人和36名俄罗斯人），他们均参加过包括奥运会在内的国际比赛。对照组由306名没有精英运动背景的日本人、137名土耳其人和173名俄罗斯人组成。我们进行了一项GWAS，比较每个种族队列中精英摔跤运动员与对照组之间单核苷酸多态性（SNP）的等位基因频率。跨群体分析包括：（1）在所有三个群体中识别具有名义显著性（<0.05）的SNP，然后（2）对重叠的SNP进行荟萃分析，以评估效应一致性和联合显著性。最后，我们调查了23名身体活跃男性中最显著的SNP是否与骨骼肌中的基因表达相关。
GWAS识别出达到名义显著性的SNP，日本人中有328,388个，土耳其人中有23,932个，俄罗斯人中有30,385个。荟萃分析显示，rs6502758和rs265061多态性在所有三个群体中均与精英摔跤状态相关（<0.0001）。这两个变异均位于内含子区域，并影响其各自基因在骨骼肌中的表达。
这是第一项在多民族队列中研究与精英摔跤状态相关的基因多态性的研究。rs6502758和rs265061多态性可能代表了与在摔跤运动中达到精英水平相关的重要遗传因素，而与种族无关。
