Leite Jean Michel Rocha Sampaio, Soler Júlia Maria Pavan, Horimoto Andréa Roseli Vançan Russo, Alvim Rafael O, Pereira Alexandre C
Bioinformatics Graduate Program, Institute of Mathematics and Statistics, São Paulo, Brazil,
Bioinformatics Graduate Program, Institute of Mathematics and Statistics, São Paulo, Brazil.
Hum Hered. 2019;84(3):151-158. doi: 10.1159/000506007. Epub 2020 Feb 21.
The engagement in sports or habitual physical activity (PA) has shown an extensive protective role against multiple diseases such as cancer, obesity, and many others. Additionally, PA has also a significant impact on life quality, since it aids with managing stress, preserving cognitive function and memory, and preventing fractures in the elderly.
Considering there has been multiple evidence showing that genetic variation underpins variation of PA-related traits, we aimed to estimate the heritability (h2) of these phenotypes in a sample from the Brazilian population and assess whether males and females differ in relation to those estimates.
2,027 participants from a highly admixed population from Baependi, MG, Brazil, had information regarding their PA and sedentary behavior (SB) phenotypes collected through a questionnaire (IPAQ-SF). After data cleaning and transformation procedures, we obtained four variables to be evaluated: total PA (TPA MET), walking time, (WK MET), moderate-vigorous PA (MVPA MET), and SB. A model selection procedure was performed using a single-step covariate inclusion approach. We tested for BMI, waist, hip and neck circumferences, smoking, and depression separately, and performed correlation tests among covariates. Linear mixed models, selection procedure, and the variance components approach to estimate h2 were implemented using SOLAR-Eclipse 8.3.1.
We obtained estimates of 0.221, 0.109, 0.226, and 0 for TPA MET, WK MET, MVPA MET, and SB, respectively. We found evidence for gene-sex interactions, with males having higher sex-specific heritabilities than females for TPA MET and MVPA MET. In addition, we found higher estimates of the genetic variance component in males than females for most phenotypes.
DISCUSSION/CONCLUSION: The heritability estimates presented in this work show a moderate heritable set of genetic factors affecting PA in a sample from the Brazilian population. The evaluation of the genetic variance component suggests segregating genetic factors in male individuals are more heterogeneous, which can explain why men globally tend to need to practice more intense PA than women to achieve similar health benefits. Hence, these findings have significant implications for the understanding of the genetic architecture of PA and might aid to promote health in the future.
参与体育运动或习惯性身体活动（PA）已显示出对多种疾病具有广泛的保护作用，如癌症、肥胖症等许多疾病。此外，身体活动对生活质量也有重大影响，因为它有助于管理压力、保持认知功能和记忆力，并预防老年人骨折。
鉴于已有多项证据表明基因变异是PA相关性状变异的基础，我们旨在估计巴西人群样本中这些表型的遗传力（h2），并评估男性和女性在这些估计值方面是否存在差异。
来自巴西米纳斯吉拉斯州巴彭迪高度混合人群的2027名参与者，通过问卷调查（IPAQ-SF）收集了他们的PA和久坐行为（SB）表型信息。经过数据清理和转换程序后，我们获得了四个待评估变量：总PA（TPA MET）、步行时间（WK MET）、中等强度至剧烈强度PA（MVPA MET）和SB。使用单步协变量纳入方法进行模型选择程序。我们分别对体重指数、腰围、臀围和颈围、吸烟和抑郁进行了测试，并对协变量进行了相关性测试。使用SOLAR-Eclipse 8.3.1实施线性混合模型、选择程序和估计h2的方差成分方法。
我们分别获得了TPA MET、WK MET、MVPA MET和SB的估计值为0.221、0.109、0.226和0。我们发现了基因-性别相互作用的证据，对于TPA MET和MVPA MET，男性的性别特异性遗传力高于女性。此外，对于大多数表型，我们发现男性的遗传方差成分估计值高于女性。
讨论/结论：本研究中呈现的遗传力估计表明，在巴西人群样本中，影响PA的一组遗传因素具有中等遗传性。遗传方差成分的评估表明，男性个体中的遗传因素分离更为异质，这可以解释为什么全球男性往往需要比女性进行更剧烈的PA才能获得类似的健康益处。因此，这些发现对理解PA的遗传结构具有重要意义，并可能有助于未来促进健康。
