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全基因组关联分析的体力活动和久坐行为提供了深入了解潜在机制和疾病预防中的作用。

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention.

机构信息

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Department of Cell and Molecular Biology, Uppsala University, Uppsala, Sweden.

出版信息

Nat Genet. 2022 Sep;54(9):1332-1344. doi: 10.1038/s41588-022-01165-1. Epub 2022 Sep 7.

DOI:10.1038/s41588-022-01165-1
PMID:36071172
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9470530/
Abstract

Although physical activity and sedentary behavior are moderately heritable, little is known about the mechanisms that influence these traits. Combining data for up to 703,901 individuals from 51 studies in a multi-ancestry meta-analysis of genome-wide association studies yields 99 loci that associate with self-reported moderate-to-vigorous intensity physical activity during leisure time (MVPA), leisure screen time (LST) and/or sedentary behavior at work. Loci associated with LST are enriched for genes whose expression in skeletal muscle is altered by resistance training. A missense variant in ACTN3 makes the alpha-actinin-3 filaments more flexible, resulting in lower maximal force in isolated type II muscle fibers, and possibly protection from exercise-induced muscle damage. Finally, Mendelian randomization analyses show that beneficial effects of lower LST and higher MVPA on several risk factors and diseases are mediated or confounded by body mass index (BMI). Our results provide insights into physical activity mechanisms and its role in disease prevention.

摘要

虽然身体活动和久坐行为具有中等程度的遗传性，但对于影响这些特征的机制知之甚少。通过对来自 51 项研究的多达 703901 个人的数据进行多祖先荟萃分析，结合全基因组关联研究的数据，发现了 99 个与休闲时间中度至剧烈强度体力活动（MVPA）、休闲屏幕时间（LST）和/或工作时久坐行为相关的位点。与 LST 相关的位点富含那些在骨骼肌中表达受抗阻训练改变的基因。ACTN3 中的错义变体使肌动蛋白-3 细丝更具柔韧性，导致 II 型肌肉纤维的最大力降低，可能防止运动引起的肌肉损伤。最后，孟德尔随机分析表明，较低的 LST 和较高的 MVPA 对几种风险因素和疾病的有益影响是由体重指数（BMI）介导或混杂的。我们的研究结果为身体活动机制及其在疾病预防中的作用提供了新的见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/ee718cbe357a/41588_2022_1165_Fig11_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/15a9e6bddda7/41588_2022_1165_Fig1_HTML.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/aa75cb357676/41588_2022_1165_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/92357dcd3c76/41588_2022_1165_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/f48461414c31/41588_2022_1165_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/f8220be474e8/41588_2022_1165_Fig7_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/4e8eaa1ee434/41588_2022_1165_Fig8_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/55e0c1066787/41588_2022_1165_Fig9_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/359e2cde1b5f/41588_2022_1165_Fig10_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/ee718cbe357a/41588_2022_1165_Fig11_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/15a9e6bddda7/41588_2022_1165_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/d824f646f511/41588_2022_1165_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/c15c2cecd89e/41588_2022_1165_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/aa75cb357676/41588_2022_1165_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/92357dcd3c76/41588_2022_1165_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/f48461414c31/41588_2022_1165_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/f8220be474e8/41588_2022_1165_Fig7_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/4e8eaa1ee434/41588_2022_1165_Fig8_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/55e0c1066787/41588_2022_1165_Fig9_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/359e2cde1b5f/41588_2022_1165_Fig10_ESM.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/86a2/9470530/ee718cbe357a/41588_2022_1165_Fig11_ESM.jpg

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