Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool, United Kingdom; Department of Physical Education, Plekhanov Russian University of Economics, Moscow, Russia; Laboratory of Molecular Genetics, Kazan State Medical University, Kazan, Russia; Sports Genetics Laboratory, St Petersburg Research Institute of Physical Culture, St Petersburg, Russia.
Department of Sport and Exercise Sciences, Manchester Metropolitan University, Manchester, United Kingdom.
Adv Clin Chem. 2022;107:215-263. doi: 10.1016/bs.acc.2021.07.004. Epub 2021 Aug 23.
Sports genomics is the scientific discipline that focuses on the organization and function of the genome in elite athletes, and aims to develop molecular methods for talent identification, personalized exercise training, nutritional need and prevention of exercise-related diseases. It postulates that both genetic and environmental factors play a key role in athletic performance and related phenotypes. This update on the panel of genetic markers (DNA polymorphisms) associated with athlete status and soft-tissue injuries covers advances in research reported in recent years, including one whole genome sequencing (WGS) and four genome-wide association (GWAS) studies, as well as findings from collaborative projects and meta-analyses. At end of 2020, the total number of DNA polymorphisms associated with athlete status was 220, of which 97 markers have been found significant in at least two studies (35 endurance-related, 24 power-related, and 38 strength-related). Furthermore, 29 genetic markers have been linked to soft-tissue injuries in at least two studies. The most promising genetic markers include HFE rs1799945, MYBPC3 rs1052373, NFIA-AS2 rs1572312, PPARA rs4253778, and PPARGC1A rs8192678 for endurance; ACTN3 rs1815739, AMPD1 rs17602729, CPNE5 rs3213537, CKM rs8111989, and NOS3 rs2070744 for power; LRPPRC rs10186876, MMS22L rs9320823, PHACTR1 rs6905419, and PPARG rs1801282 for strength; and COL1A1 rs1800012, COL5A1 rs12722, COL12A1 rs970547, MMP1 rs1799750, MMP3 rs679620, and TIMP2 rs4789932 for soft-tissue injuries. It should be appreciated, however, that hundreds and even thousands of DNA polymorphisms are needed for the prediction of athletic performance and injury risk.
运动基因组学是一门专注于精英运动员基因组组织和功能的科学学科，旨在开发分子方法以进行人才识别、个性化运动训练、营养需求和预防与运动相关的疾病。它假定遗传和环境因素都对运动表现和相关表型起着关键作用。本综述更新了与运动员身份和软组织损伤相关的遗传标记（DNA 多态性），涵盖了近年来报道的研究进展，包括一项全基因组测序（WGS）和四项全基因组关联（GWAS）研究，以及合作项目和荟萃分析的结果。截至 2020 年底，与运动员身份相关的 DNA 多态性总数为 220 个，其中 97 个标记在至少两项研究中具有显著性（35 个与耐力相关，24 个与力量相关，38 个与力量相关）。此外，有 29 个遗传标记在至少两项研究中与软组织损伤有关。最有前途的遗传标记包括 HFE rs1799945、MYBPC3 rs1052373、NFIA-AS2 rs1572312、PPARA rs4253778 和 PPARGC1A rs8192678 与耐力相关；ACTN3 rs1815739、AMPD1 rs17602729、CPNE5 rs3213537、CKM rs8111989 和 NOS3 rs2070744 与力量相关；LRPPRC rs10186876、MMS22L rs9320823、PHACTR1 rs6905419 和 PPARG rs1801282 与力量相关；COL1A1 rs1800012、COL5A1 rs12722、COL12A1 rs970547、MMP1 rs1799750、MMP3 rs679620 和 TIMP2 rs4789932 与软组织损伤相关。然而，需要注意的是，预测运动表现和受伤风险需要数百甚至数千个 DNA 多态性。
