Department of Human and Medical Genetics, Institute of Biomedical Science, Faculty of Medicine, Vilnius University, 01513 Vilnius, Lithuania.
Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool L3 5AF, UK.
Genes (Basel). 2021 Sep 25;12(10):1499. doi: 10.3390/genes12101499.
Multiple genetic variants are known to influence athletic performance. These include polymorphisms of the muscle-specific creatine kinase () gene, which have been associated with endurance and/or power phenotypes. However, independent replication is required to support those findings. The aim of the present study was to determine whether the (, c.*800A>G) polymorphism is associated with power athlete status in professional Russian and Lithuanian competitors. Genomic DNA was collected from 693 national and international standard athletes from Russia ( = 458) and Lithuania ( = 235), and 500 healthy non-athlete subjects from Russia ( = 291) and Lithuania ( = 209). Genotyping for the rs8111989 (A/G) polymorphism was performed using PCR or micro-array analysis. Genotype and allele frequencies were compared between all athletes and non-athletes, and between non-athletes and athletes, segregated according to population and sporting discipline (from anaerobic-type events). No statistically significant differences in genotype or allele frequencies were observed between non-athletes and power athletes (strength-, sprint- and speed/strength-oriented) athletes. The present study reports the non-association of the rs8111989 with elite status in athletes from sports in which anaerobic energy pathways determine success.
已知多种遗传变异可影响运动表现。这些变异包括肌肉特异性肌酸激酶（）基因的多态性，这些多态性与耐力和/或力量表型有关。然而，需要进行独立的复制来支持这些发现。本研究的目的是确定肌肉特异性肌酸激酶（）基因的 rs8111989（A/G）多态性是否与俄罗斯和立陶宛职业运动员的力量型运动员身份有关。从俄罗斯（n = 458）和立陶宛（n = 235）的 693 名国家和国际标准运动员以及俄罗斯（n = 291）和立陶宛（n = 209）的 500 名健康非运动员中采集基因组 DNA。使用 PCR 或微阵列分析对 rs8111989 （A/G）多态性进行基因分型。在所有运动员和非运动员之间，以及根据人群和运动项目（从厌氧型事件）进行划分的非运动员和运动员之间，比较了基因型和等位基因频率。在非运动员和力量型运动员（力量型、短跑型和速度/力量型）运动员之间，基因型和等位基因频率没有统计学差异。本研究报告了 rs8111989 与决定成功的厌氧能量途径的运动项目中精英运动员身份无关。
