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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.

Citation: Zani ALS, Gouveia MH, Aquino MM, Quevedo R, Menezes RL, Rotimi C, et al. (2022) Genetic differentiation in East African ethnicities and its relationship with endurance running success. PLoS ONE 17(5):
e0265625.

https://doi.org/10.1371/journal.pone.0265625

Editor: David Meyre, McMaster University, CANADA

Received: September 7, 2021; Accepted: March 4, 2022; Published: May 19, 2022

This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.

Data Availability: Data for populations included in the 1,000 Genomes Project is publicly available from https://www.internationalgenome.org/, maintained by the International Genome Sample Resource (IGSR). For the populations included in the AGVP there are Data Access Restrictions. The AGVP represents dense genotyping data on 1,481 individuals from 18 ethno-linguistic groups and low coverage whole genome sequencing data on 320 individuals from 7 ethno-linguistic groups in sub-Saharan Africa. This data is archived in the European Genotype-phenotype Archive (https://ega-archive.org/studies/EGAS00001000959), and access can be requested to the Data Access Committee of the relevant population sets at datasharing@sanger.ac.uk.

Funding: A.L.S.Z received a scholarship from the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq, Brazil). M.H.G and C.R are supported by the Intramural Research Program of the National Human Genome Research Institute of the National Institutes of Health (NIH) through the Center for Research on Genomics and Global Health (CRGGH). M.M.A. and R.L.M. received a scholarship from the Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES – Finance Code 001, Brazil). R.Q. received a scholarship from PROREXT-UFRGS, Brazil. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Competing interests: The authors have declared that no competing interests exist.