Loos Ruth J F, Hagberg James M, Pérusse Louis, Roth Stephen M, Sarzynski Mark A, Wolfarth Bernd, Rankinen Tuomo, Bouchard Claude
1The 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; 2Department of Kinesiology, School of Public Health, University of Maryland, College Park, MD; 3Department of Kinesiology, Faculty of Medicine, Laval University, Ste-Foy, Québec, CANADA; 4Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA; 5Department of Sport Medicine, Humboldt University and Charité University School of Medicine, Berlin, GERMANY.
Med Sci Sports Exerc. 2015 Jun;47(6):1105-12. doi: 10.1249/MSS.0000000000000645.
This is the annual review of the exercise genomics literature in which we report on the highest quality papers published in 2014. We identified a number of noteworthy papers across a number of fields. In 70-89 yr olds, only 19% of angiotensin-converting enzyme (ACE) II homozygotes exhibited significant improvement in gait speed in response to a yearlong physical activity program compared to 30% of ACE D-allele carriers. New studies continue to support the notion that the genetic susceptibility to obesity, as evidenced by a genomic risk score (GRS; based on multiple single nucleotide polymorphisms), is attenuated by 40%-50% in individuals who are physically active, compared to those who are sedentary. One study reported that the polygenic risk for hypertriglyceridemia was reduced by 30%-40% in individuals with high cardiorespiratory fitness. One report showed that there was a significant interaction of a type 2 diabetes GRS with physical activity, with active individuals having the lowest risk of developing diabetes. The protective effect of physical activity was most pronounced in the low GRS tertile (hazard ratio, 0.82). The interaction observed with the diabetes GRS seemed to be dependent on a genetic susceptibility to insulin resistance and not insulin secretion. A significant interaction between PPARα sequence variants and physical activity levels on cardiometabolic risk was observed, with higher activity levels associated with lower risk only in carriers of specific genotypes and haplotypes. The review concludes with a discussion of the importance of replication studies when very large population or intervention discovery studies are not feasible or are cost prohibitive.
这是运动基因组学文献的年度综述，我们在此报告2014年发表的高质量论文。我们在多个领域发现了一些值得关注的论文。在70至89岁的人群中，与30%的血管紧张素转换酶（ACE）D等位基因携带者相比，只有19%的ACE II纯合子在参加为期一年的体育活动计划后，步态速度有显著改善。新的研究继续支持这样一种观点，即通过基因组风险评分（GRS；基于多个单核苷酸多态性）所证明的肥胖遗传易感性，在体力活动者中比久坐不动者降低了40%至50%。一项研究报告称，心肺功能良好的个体中，高甘油三酯血症的多基因风险降低了30%至40%。一份报告显示，2型糖尿病GRS与体育活动之间存在显著相互作用，体力活动者患糖尿病的风险最低。体育活动的保护作用在GRS低三分位数人群中最为明显（风险比为0.82）。观察到的与糖尿病GRS的相互作用似乎取决于对胰岛素抵抗而非胰岛素分泌的遗传易感性。观察到过氧化物酶体增殖物激活受体α（PPARα）序列变异与体育活动水平之间对心脏代谢风险存在显著相互作用，只有特定基因型和单倍型的携带者中，较高的活动水平才与较低风险相关。综述最后讨论了在非常大规模的人群或干预发现研究不可行或成本过高时，重复研究的重要性。
