Hwang In Wook, Kim Kicheol, Kwon Bit Na, Kim Hyung Jun, Han Seung Hun, Lee Noo Ri, Choi Eun Ji, Cho Hyun Ik, Jin Han Jun
Department of Biological Sciences, College of Natural Science, Dankook University, Cheonan, 31116, South Korea.
Department of Neurology, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, 94158, USA.
Genes Genomics. 2019 Jan;41(1):71-78. doi: 10.1007/s13258-018-0737-6. Epub 2018 Sep 10.
Human physical performance is a highly complex phenotype that is influenced by various factors. In particular, genetic factors related to muscle fiber type, bone density, muscle performance, and metabolic processes are known to contribute in varying degrees to athlete status and physical performance in various ethnic groups. To investigate the relationship between these genetic factors and physical performances, we genotyped five genetic polymorphisms (ACE Ins/Del, ACTN3 R577X, ER-α C/T, GSTM1 null/present, and GSTT1 null/present) in 111 Korean athletes and 145 controls. We examined genotype and allele frequency differences between athletes and control groups, along with the odds ratios, using Chi square. One-way analysis of variance (ANOVA) was used to test the significance of differences in continuous variables between the multiple genetic polymorphisms and physical performance test results. The GSTM1 polymorphism exhibited a highly significant association in athletes (p = 0.017). Combined analysis of GSTM1 and GSTT1 also revealed significant differences between athletes and controls (p < 0.05). In the analysis of physical performance within athletes, the ER-α gene polymorphism was associated with the sargent jump and the side-step (p < 0.05), and the GSTM1 gene polymorphism was significantly associated with the 20 m shuttle run and sit-up (p < 0.05). Thus, our data imply that GSTM1 and ER-α gene polymorphisms were associated with physical performance in Korean athletes, although functional studies with larger sample sizes are necessary to elaborate upon these findings.
人类身体表现是一种高度复杂的表型,受到多种因素的影响。特别是,已知与肌纤维类型、骨密度、肌肉性能和代谢过程相关的遗传因素在不同程度上对不同种族群体的运动员状态和身体表现有贡献。为了研究这些遗传因素与身体表现之间的关系,我们对111名韩国运动员和145名对照组进行了5种基因多态性(ACE Ins/Del、ACTN3 R577X、ER-α C/T、GSTM1 null/present和GSTT1 null/present)的基因分型。我们使用卡方检验检查了运动员组和对照组之间的基因型和等位基因频率差异以及优势比。单向方差分析(ANOVA)用于检验多种基因多态性与身体表现测试结果之间连续变量差异的显著性。GSTM1多态性在运动员中表现出高度显著的相关性(p = 0.017)。GSTM1和GSTT1的联合分析也显示运动员和对照组之间存在显著差异(p < 0.05)。在对运动员身体表现的分析中,ER-α基因多态性与萨金特纵跳和侧步相关(p < 0.05),GSTM1基因多态性与20米穿梭跑和仰卧起坐显著相关(p < 0.05)。因此,我们的数据表明GSTM1和ER-α基因多态性与韩国运动员的身体表现相关,尽管需要更大样本量的功能研究来详细阐述这些发现。