Riguene Emna, Theodoridou Maria, Barrak Laila, Elrayess Mohamed A, Nomikos Michail
College of Medicine, QU Health, Qatar University, Doha P.O. Box 2713, Qatar.
Biomedical Research Center (BRC), Qatar University, Doha P.O. Box 2713, Qatar.
J Cardiovasc Dev Dis. 2023 Sep 18;10(9):400. doi: 10.3390/jcdd10090400.
Athletic performance is a multifactorial trait influenced by a complex interaction of environmental and genetic factors. Over the last decades, understanding and improving elite athletes' endurance and performance has become a real challenge for scientists. Significant tools include but are not limited to the development of molecular methods for talent identification, personalized exercise training, dietary requirements, prevention of exercise-related diseases, as well as the recognition of the structure and function of the genome in elite athletes. Investigating the genetic markers and phenotypes has become critical for elite endurance surveillance. The identification of genetic variants contributing to a predisposition for excellence in certain types of athletic activities has been difficult despite the relatively high genetic inheritance of athlete status. Metabolomics can potentially represent a useful approach for gaining a thorough understanding of various physiological states and for clarifying disorders caused by strength-endurance physical exercise. Based on a previous GWAS study, this manuscript aims to discuss the association of specific single-nucleotide polymorphisms (SNPs) located in the gene encoding for cardiac MyBP-C protein with endurance athlete status. is linked to elite athlete heart remodeling during or after exercise, but it could also be linked to the phenotype of cardiac hypertrophy (HCM). To make the distinction between both phenotypes, specific metabolites that are influenced by variants in the gene are analyzed in relation to elite athletic performance and HCM. These include theophylline, ursodeoxycholate, quinate, and decanoyl-carnitine. According to the analysis of effect size, theophylline, quinate, and decanoyl carnitine increase with endurance while decreasing with cardiovascular disease, whereas ursodeoxycholate increases with cardiovascular disease. In conclusion, and based on our metabolomics data, the specific effects on athletic performance for each SNP-associated metabolite are discussed.
运动表现是一种受环境和遗传因素复杂相互作用影响的多因素特征。在过去几十年里，理解和提高精英运动员的耐力及表现已成为科学家面临的一项现实挑战。重要工具包括但不限于开发用于人才识别的分子方法、个性化运动训练、饮食要求、预防运动相关疾病，以及识别精英运动员基因组的结构和功能。研究遗传标记和表型对于精英耐力监测至关重要。尽管运动员身份的遗传遗传性相对较高，但确定导致某些类型体育活动卓越倾向的基因变异一直很困难。代谢组学可能是一种有助于深入了解各种生理状态并阐明力量耐力体育锻炼引起的紊乱的有用方法。基于之前的全基因组关联研究（GWAS），本手稿旨在讨论位于心脏肌球蛋白结合蛋白C（MyBP-C）编码基因中的特定单核苷酸多态性（SNP）与耐力运动员身份的关联。 与运动期间或运动后精英运动员心脏重塑有关，但也可能与心脏肥大（HCM）的表型有关。为了区分这两种表型，分析了受该基因变异影响的特定代谢物与精英运动表现和HCM的关系。这些代谢物包括茶碱、熊去氧胆酸盐、奎尼酸和癸酰肉碱。根据效应大小分析，茶碱、奎尼酸和癸酰肉碱随耐力增加而增加，随心血管疾病减少，而熊去氧胆酸盐随心血管疾病增加。总之，基于我们的代谢组学数据，讨论了每个与SNP相关的代谢物对运动表现的具体影响。
