1Department of Exercise Science, Arnold School of Public Health, University of South Carolina, Columbia, SC; 2The Genetics of Obesity and Related Metabolic Traits Program, The Charles Bronfman Institute for Personalized Medicine, The Mindich Child Health and Development Institute, The Icahn School of Medicine at Mount Sinai, New York, NY; 3Universidad Europea and Research Institute, Hospital 12 de Octubre (i+12), Madrid, SPAIN; 4Faculty of Medicine, Department of Kinesiology, Laval University, Ste-Foy, Québec, CANADA; 5Department of Kinesiology, School of Public Health, University of Maryland, College Park, MD; 6Department of Sport Medicine, Humboldt University and Charité University School of Medicine, Berlin, GERMANY; and 7Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA.
Med Sci Sports Exerc. 2016 Oct;48(10):1906-16. doi: 10.1249/MSS.0000000000000982.
This review of the exercise genomics literature encompasses the highest-quality articles published in 2015 across seven broad topics: physical activity behavior, muscular strength and power, cardiorespiratory fitness and endurance performance, body weight and adiposity, insulin and glucose metabolism, lipid and lipoprotein metabolism, and hemodynamic traits. One study used a quantitative trait locus for wheel running in mice to identify single nucleotide polymorphisms (SNPs) in humans associated with physical activity levels. Two studies examined the association of candidate gene ACTN3 R577X genotype on muscular performance. Several studies examined gene-physical activity interactions on cardiometabolic traits. One study showed that physical inactivity exacerbated the body mass index (BMI)-increasing effect of an FTO SNP but only in individuals of European ancestry, whereas another showed that high-density lipoprotein cholesterol (HDL-C) SNPs from genome-wide association studies exerted a smaller effect in active individuals. Increased levels of moderate-to-vigorous-intensity physical activity were associated with higher Matsuda insulin sensitivity index in PPARG Ala12 carriers but not Pro12 homozygotes. One study combined genome-wide and transcriptome-wide profiling to identify genes and SNPs associated with the response of triglycerides (TG) to exercise training. The genome-wide association study results showed that four SNPs accounted for all of the heritability of △TG, whereas the baseline expression of 11 genes predicted 27% of △TG. A composite SNP score based on the top eight SNPs derived from the genomic and transcriptomic analyses was the strongest predictor of ΔTG, explaining 14% of the variance. The review concludes with a discussion of a conceptual framework defining some of the critical conditions for exercise genomics studies and highlights the importance of the recently launched National Institutes of Health Common Fund program titled "Molecular Transducers of Physical Activity in Humans."
这篇运动基因组学文献综述涵盖了 2015 年在七个广泛的主题领域发表的最高质量的文章:体力活动行为、肌肉力量和力量、心肺健康和耐力表现、体重和肥胖、胰岛素和葡萄糖代谢、脂质和脂蛋白代谢以及血液动力学特征。一项研究使用了小鼠轮跑的数量性状位点,来鉴定与人类体力活动水平相关的单核苷酸多态性(SNP)。两项研究检测了候选基因 ACTN3 R577X 基因型对肌肉性能的影响。几项研究检测了基因-体力活动相互作用对心血管代谢特征的影响。一项研究表明,身体活动不足加剧了 FTO SNP 对体重指数(BMI)的增加作用,但仅在欧洲血统个体中;另一项研究表明,来自全基因组关联研究的高密度脂蛋白胆固醇(HDL-C)SNP 在活跃个体中的作用较小。中等至剧烈强度体力活动水平的增加与 PPARG Ala12 携带者的 Matsuda 胰岛素敏感性指数升高有关,但与 Pro12 纯合子无关。一项研究结合了全基因组和转录组范围的分析,以确定与甘油三酯(TG)对运动训练的反应相关的基因和 SNP。全基因组关联研究结果表明,四个 SNP 解释了 TG 的全部遗传率,而 11 个基因的基线表达预测了 TG 的 27%。基于基因组和转录组分析得出的前八个 SNP 的组合 SNP 评分是 TG 的最强预测因子,解释了 14%的方差。该综述最后讨论了定义运动基因组学研究一些关键条件的概念框架,并强调了最近启动的美国国立卫生研究院共同基金项目“人类身体活动的分子转导器”的重要性。