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Heritability and Sex-Specific Genetic Effects of Self-Reported Physical Activity in a Brazilian Highly Admixed Population.
Human Heredity ( IF 1.8 ) Pub Date : 2020-02-21 , DOI: 10.1159/000506007
Jean Michel Rocha Sampaio Leite 1 , Júlia Maria Pavan Soler 2 , Andréa Roseli Vançan Russo Horimoto 3, 4 , Rafael O Alvim 5 , Alexandre C Pereira 3
Affiliation  

Introduction: 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. Objective: 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. Methods: 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. Results: 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.
Hum Hered 2019;84:151–157


中文翻译:

在巴西高度混杂的人群中自我报告的体育活动的遗传力和特定性别的遗传效应。

简介:从事体育运动或习惯性体育锻炼(PA)已显示出对多种疾病(如癌症,肥胖症和许多其他疾病)的广泛保护作用。此外,PA对生活质量也有重要影响,因为它有助于缓解压力,保持认知功能和记忆力并防止老年人骨折。目的:考虑到有许多证据表明遗传变异是PA相关性状变异的基础,我们旨在评估巴西人群样本中这些表型的遗传力(h 2),并评估男性和女性在性别上是否存在差异这些估计。方法:来自巴西MG的Baependi的高度混杂人群的2,027名参与者通过问卷(IPAQ-SF)收集了有关其PA和久坐行为(SB)表型的信息。经过数据清理和转换程序后,我们获得了四个要评估的变量:总PA(TPA MET),步行时间,(WK MET),中等强度PA(MVPA MET)和SB。使用单步协变量包含方法执行模型选择程序。我们分别测试了BMI,腰围,臀部和颈围,吸烟和抑郁,并在协变量之间进行了相关性测试。使用SOLAR-Eclipse 8.3.1实现了线性混合模型,选择过程和方差分量方法来估计h 2结果:对于TPA MET,WK MET,MVPA MET和SB,我们分别获得了0.221、0.109、0.226和0的估计值。我们发现了基因-性别相互作用的证据,男性TPA MET和MVPA MET的性别特异性遗传力高于女性。此外,我们发现在大多数表型中男性的遗传变异分量估计值高于女性。讨论/结论:这项工作中提出的遗传力估计值显示了影响巴西人口样本中PA的中等遗传因素。对遗传变异成分的评估表明,男性个体中遗传因素的分离更加异质,这可以解释为什么全球男性为了获得类似的健康益处而往往需要比女性练习更剧烈的PA。因此,这些发现对理解PA的遗传结构具有重要意义,并可能有助于将来促进健康。
嗡嗡声到来的2019; 84:151–157
更新日期:2020-02-21
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