Laboratory of Applied Nutrition and Metabolism, School of Physical Education and Sport, University of São Paulo, São Paulo 05508-030, Brazil.
Laboratory of Biochemistry and Molecular Biology of Exercise, School of Physical Education and Sport, University of São Paulo, São Paulo 05508-030, Brazil.
Genes (Basel). 2022 Sep 23;13(10):1710. doi: 10.3390/genes13101710.
Brisk walkers are physically more active, taller, have reduced body fat and greater physical fitness and muscle strength. The aim of our study was to determine whether genetic variants associated with increased walking pace were overrepresented in elite sprinters compared to controls. A total of 70 single-nucleotide polymorphisms (SNPs) previously identified in a genome-wide association study (GWAS) of self-reported walking pace in 450,967 European individuals were explored in relation to sprinter status. Genotyping of 137 Russian elite sprinters and 126 controls was performed using microarray technology. Favorable (i.e., high-speed-walking) alleles of 15 SNPs (FHL2 rs55680124 C, SLC39A8 rs13107325 C, E2F3 rs4134943 T, ZNF568 rs1667369 A, GDF5 rs143384 G, PPARG rs2920503 T, AUTS2 rs10452738 A, IGSF3 rs699785 A, CCT3 rs11548200 T, CRTAC1 rs2439823 A, ADAM15 rs11264302 G, C6orf106 rs205262 A, AKAP6 rs12883788 C, CRTC1 rs11881338 A, NRXN3 rs8011870 G) were identified as having positive associations with sprinter status (p < 0.05), of which IGSF3 rs699785 survived correction for multiple testing (p = 0.00004) and was linked (p = 0.042) with increased proportions of fast-twitch muscle fibers of m. vastus lateralis in physically active men (n = 67). Polygenic analysis revealed that individuals with ≥18 favorable alleles of the 15 SNPs have an increased odds ratio of being an elite sprinter when compared to those with ≤17 alleles (OR: 7.89; p < 0.0001). Using UK Biobank data, we also established the association of 14 favorable alleles with low BMI and fat percentage, 8 alleles with increased handgrip strength, and 7 alleles with increased height and fat-free mass. In conclusion, we have identified 15 new genetic markers associated with sprinter status.
快步走者身体更活跃,身高更高,体脂减少,身体更健康,肌肉力量更强。我们的研究目的是确定与增加的步速相关的遗传变异是否在精英短跑运动员中比对照组更为常见。在一项对 450967 名欧洲个体的自我报告步速进行全基因组关联研究(GWAS)中,我们共探讨了 70 个单核苷酸多态性(SNP)与短跑运动员身份的关系。使用微阵列技术对 137 名俄罗斯精英短跑运动员和 126 名对照者进行了 15 个 SNP(FHL2 rs55680124 C、SLC39A8 rs13107325 C、E2F3 rs4134943 T、ZNF568 rs1667369 A、GDF5 rs143384 G、PPARG rs2920503 T、AUTS2 rs10452738 A、IGSF3 rs699785 A、CCT3 rs11548200 T、CRTAC1 rs2439823 A、ADAM15 rs11264302 G、C6orf106 rs205262 A、AKAP6 rs12883788 C、CRTC1 rs11881338 A、NRXN3 rs8011870 G)的有利(即高速行走)等位基因与短跑运动员身份呈正相关(p < 0.05),其中 IGSF3 rs699785 在经过多次检验校正后仍具有统计学意义(p = 0.00004),并且与运动男性股外侧肌快肌纤维比例增加相关(p = 0.042)(n = 67)。多基因分析显示,与≤17 个等位基因相比,具有 15 个 SNP 中≥18 个有利等位基因的个体成为精英短跑运动员的可能性更高(OR:7.89;p < 0.0001)。利用英国生物银行(UK Biobank)的数据,我们还确定了 14 个有利等位基因与低 BMI 和体脂百分比、8 个等位基因与握力增加、7 个等位基因与身高和去脂体重增加有关。总之,我们已经确定了 15 个与短跑运动员身份相关的新遗传标记。