Department of Natural Sciences and Environmental Health, University of South-Eastern Norway, Gullbringvegen 36, 3800, Bø i, Telemark, Norway.
Department of Sports, Physical Education and Outdoor Studies, University of South-Eastern Norway, Gullbringvegen 36, 3800, Bø i, Telemark, Norway.
BMC Genet. 2020 Jan 23;21(1):8. doi: 10.1186/s12863-020-0813-1.
There are large individual differences in physical activity (PA) behavior as well as trainability of physical capacity. Heritability studies have shown that genes may have as much impact on exercise participation behavior as environmental factors. Genes that favor both trainability and participation may increase the levels of PA. The present study aimed to assess the allele frequencies in genes associated with PA and/or physical capacity, and to see if there is any association between these polymorphisms and self-reported PA levels in a cohort of middle-aged Norwegians of Scandinavian descent (n = 831; mean age mean age (± SD) 55.5 ± 3.8 years).
The genotype distributions of the ACTN3 R577X, ACE I/D and MAOA uVNTR polymorphisms were similar to other populations of European descent. When comparing the genotype distribution between the low/medium level PA group (LMPA) and high level PA groups (HPA), a significant difference in ACTN3 577X allele distribution was found. The X allele frequency was 10% lower in the HPA level group (P = 0.006). There were no differences in the genotype distribution of the ACE I/D or MAOA uVNTR polymorphism. Education and previous participation in sports or outdoor activities was positively associated with the self-reported PA levels (P ≤ 0.001).
To the best of our knowledge, this is the first study to report association between ACTN3 R577X genotype and PA level in middle-aged Scandinavians. Nevertheless, the contribution of a single polymorphism to a complex trait, like PA level, is likely small. Socioeconomic variables, as education and previous participation in sports or outdoor activities, are positively associated with the self-reported PA levels.
体力活动(PA)行为以及身体能力的可训练性存在很大的个体差异。遗传研究表明,基因对运动参与行为的影响可能与环境因素一样大。有利于可训练性和参与的基因可能会增加 PA 的水平。本研究旨在评估与 PA 和/或身体能力相关的基因中的等位基因频率,并观察这些多态性与一个具有斯堪的纳维亚血统的中年挪威人群(n=831;平均年龄为 55.5±3.8 岁)自我报告的 PA 水平之间是否存在任何关联。
ACTN3 R577X、ACE I/D 和 MAOA uVNTR 多态性的基因型分布与其他欧洲血统人群相似。当比较低/中水平 PA 组(LMPA)和高水平 PA 组(HPA)的基因型分布时,发现 ACTN3 577X 等位基因分布存在显著差异。HPA 水平组的 X 等位基因频率低 10%(P=0.006)。ACE I/D 或 MAOA uVNTR 多态性的基因型分布无差异。教育程度和以前参加运动或户外活动与自我报告的 PA 水平呈正相关(P≤0.001)。
据我们所知,这是第一项报道 ACTN3 R577X 基因型与中年斯堪的纳维亚人 PA 水平之间存在关联的研究。然而,单个多态性对复杂特征(如 PA 水平)的贡献可能很小。社会经济变量,如教育程度和以前参加运动或户外活动,与自我报告的 PA 水平呈正相关。