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东非族群的遗传分化及其与耐力跑成功的关系。

Genetic differentiation in East African ethnicities and its relationship with endurance running success.

机构信息

Postgraduate Program in Genetics and Molecular Biology, Institute of Biosciences, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.

Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

出版信息

PLoS One. 2022 May 19;17(5):e0265625. doi: 10.1371/journal.pone.0265625. eCollection 2022.

Abstract

Since the 1960s, East African athletes, mainly from Kenya and Ethiopia, have dominated long-distance running events in both the male and female categories. Further demographic studies have shown that two ethnic groups are overrepresented among elite endurance runners in each of these countries: the Kalenjin, from Kenya, and the Oromo, from Ethiopia, raising the possibility that this dominance results from genetic or/and cultural factors. However, looking at the life history of these athletes or at loci previously associated with endurance athletic performance, no compelling explanation has emerged. Here, we used a population approach to identify peaks of genetic differentiation for these two ethnicities and compared the list of genes close to these regions with a list, manually curated by us, of genes that have been associated with traits possibly relevant to endurance running in GWAS studies, and found a significant enrichment in both populations (Kalenjin, P = 0.048, and Oromo, P = 1.6x10-5). Those traits are mainly related to anthropometry, circulatory and respiratory systems, energy metabolism, and calcium homeostasis. Our results reinforce the notion that endurance running is a systemic activity with a complex genetic architecture, and indicate new candidate genes for future studies. Finally, we argue that a deterministic relationship between genetics and sports must be avoided, as it is both scientifically incorrect and prone to reinforcing population (racial) stereotyping.

摘要

自 20 世纪 60 年代以来,东非运动员(主要来自肯尼亚和埃塞俄比亚)在男女长跑项目中占据主导地位。进一步的人口研究表明,在这两个国家的精英耐力跑步者中,有两个族群的代表性过高:肯尼亚的卡伦金人和埃塞俄比亚的奥罗莫人,这使得这种主导地位可能源于遗传和/或文化因素。然而,观察这些运动员的生活史或先前与耐力运动表现相关的基因座,并没有出现令人信服的解释。在这里,我们使用群体方法来确定这两个族群的遗传分化峰,并将接近这些区域的基因列表与我们手动整理的与 GWAS 研究中可能与耐力跑步相关的特征相关的基因列表进行比较,在两个群体中都发现了显著的富集(卡伦金人,P = 0.048,奥罗莫人,P = 1.6x10-5)。这些特征主要与人体测量学、循环和呼吸系统、能量代谢和钙稳态有关。我们的研究结果强化了耐力跑步是一种具有复杂遗传结构的系统性活动的观点,并为未来的研究提供了新的候选基因。最后,我们认为必须避免遗传与运动之间的确定性关系,因为这既在科学上不正确,也容易强化人口(种族)刻板印象。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba2a/9119534/09a4b7c09dd6/pone.0265625.g001.jpg

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