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abstract:
Original paper
Multi-phase, multi-ethnic GWAS uncovers putative loci
in predisposition to elite sprint and power performance, health
and disease
Ildus I. Ahmetov
8, 9, 10
,
Sportgene Research Group
,
Maxim L. Filipenko
12, 13
,
Valentina Gineviciene
16
,
Ioannis Papadimitriou
21
,
- School of Sport and Health Sciences, University of Brighton, Eastbourne
BN20 7SN, United Kingdom
- Graduate School of Health and Sports Science, Juntendo University,
Chiba 270-1695, Japan
- Graduate School of Medicine, Juntendo University, Tokyo 113-8421,
Japan
- Faculty of Sport Sciences, Waseda University, Saitama 359-1192, Japan
- College of Sport and Health Science, Ritsumeikan University, Shiga 525-
8577, Japan
- School of Medicine, University of Maryland, Baltimore 21201, MD,
United States
- Diabetes Association of Jamaica, Kingston 5, Jamaica
- Research Institute for Sport and Exercise Sciences, Liverpool John Moores
University, Liverpool, United Kingdom
- Laboratory of Genetics of Aging and Longevity, Kazan State Medical
University, Kazan, Russian Federation
- Department of Physical Education, Plekhanov Russian University of
Economics, Moscow, Russian Federation
- Department of Molecular Biology and Genetics, Lopukhin Federal
Research and Clinical Center of Physical-Chemical Medicine of Federal
Medical Biological Agency, Moscow, Russian Federation
- Laboratory of Pharmacogenomics, Institute of Chemical Biology and
Fundamental Medicine, Siberian Branch of the Russian Academy of
Sciences, Novosibirsk, Russian Federation
- Novosibirsk State University, Novosibirsk, Russian Federation
- Laboratory of Molecular Diagnostics and Biotechnology, Institute of
Bioorganic Chemistry of the National Academy of Sciences of Belarus,
Minsk, Belarus
- Laboratory of Intermolecular Interactions, Institute of Biomedical
Chemistry (IBMC), Moscow, Russian Federation
- Translational health research Institute, Faculty of Medicine, Vilnius
University, Vilnius LT-08406, Lithuania
- Physiology, Exercise and Nutrition Research Group, Faculty of Health
Sciences and Sport, University of Stirling, Stirling FK9 4LA, United
Kingdom
- Lithuanian Sports University, Kaunas LT-44221, Lithuania
- Gdansk University of Physical Education and Sport, Gdansk 80-336,
Poland
- Department of Movement and Sports Sciences, Ghent University, Ghent
B-9000, Belgium
- Department of Physiology, Faculty of Science, Mahidol University,
Bangkok 10400, Thailand
- Institute for Molecular Bioscience, University of Queensland, Brisbane
4072, QLD, Australia
- Institute of Cardiovascular and Medical Sciences, University of Glasgow,
Glasgow G12 8TA, United Kingdom
- Department of Sport, Physical Education and Health, Hong Kong Baptist University, Kowloon Tong, Hong Kong
Biol Sport. 2025;42(3):141–159
Online publish date: 2025/02/04
PlumX metrics:
The genetic underpinnings of elite sprint and power performance remain largely elusive. This study aimed to identify genetic variants associated with this complex trait as well as to understand their functional implications in elite sprint and power performance. We conducted a multi-phase genome-wide association study (GWAS) in world-class sprint and power athletes of West African and East Asian ancestry and their geographically matched controls. We carried out genotype imputation, replications for the top GWAS signal rs10196189 in two European cohorts, and gene-based and tissue-specific functional network analyses. For the first time, we uncovered the G-allele of rs10196189 in the Polypeptide N Acetylgalactosaminyltransferase 13 (GALNT13) being significantly associated with elite sprint and power performance (P = 2.13E-09 across the three ancestral groups). Moreover, we found that GALNT13 expression level was positively associated with the relative area occupied by fast-twitch muscle fibers in the vastus lateralis muscle. In addition, significant and borderline associations were observed for BOP1, HSF1, STXBP2, GRM7, MPRIP, ZFYVE28, CERS4, and ADAMTS18 in cross-ancestry or ancestry-specific contexts, predominantly expressed in the nervous and hematopoietic systems. From the elite athlete cohorts, we further identified thirty-six previously uncharacterized genes linked to host defence, leukocyte migration, and cellular responses to interferon-gamma, and four genes – UQCRFS1, PTPN6, RALY and ZMYM4 – associated with aging, neurological conditions, and blood disorders. Taken together, these results provide new biological insights into the genetic basis of elite sprint and power performance and, importantly, offer valuable clues to the molecular mechanisms underlying elite athletic performance, health and disease.
keywords:
Polypeptide N-Acetylgalactosaminyltransferase 13, GWAS, Imputation, Meta-analysis, Genetic diversity, Functional annotations
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