Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease
1
Issued Date
2025-01-01
Resource Type
ISSN
0860021X
eISSN
20831862
Scopus ID
2-s2.0-105005964260
Journal Title
Biology of Sport
Volume
42
Issue
3
Start Page
141
End Page
159
Rights Holder(s)
SCOPUS
Bibliographic Citation
Biology of Sport Vol.42 No.3 (2025) , 141-159
Suggested Citation
Wang G., Fuku N., Miyamoto-Mikami E., Tanaka M., Miyachi M., Murakami H., Mitchell B.D., Morrison E., Ahmetov I.I., Generozov E.V., Filipenko M.L., Gilep A.A., Gineviciene V., Moran C.N., Venckunas T., Cieszczyk P., Derave W., Papadimitriou I., Garton F.C., Padmanabhan S., Pitsiladis Y.P., Egorova E.S., Gabdrakhmanova L.J., Semenova E.A., Kulemin N.A., Larin A.K., Sultanov R.I., Zhelankin A.V., Haidukevich I.V., Gilep I.L., Akimov E.B. Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease. Biology of Sport Vol.42 No.3 (2025) , 141-159. 159. doi:10.5114/biolsport.2025.147015 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/110444
Title
Multi-phase, multi-ethnic GWAS uncovers putative loci in predisposition to elite sprint and power performance, health and disease
Author(s)
Wang G.
Fuku N.
Miyamoto-Mikami E.
Tanaka M.
Miyachi M.
Murakami H.
Mitchell B.D.
Morrison E.
Ahmetov I.I.
Generozov E.V.
Filipenko M.L.
Gilep A.A.
Gineviciene V.
Moran C.N.
Venckunas T.
Cieszczyk P.
Derave W.
Papadimitriou I.
Garton F.C.
Padmanabhan S.
Pitsiladis Y.P.
Egorova E.S.
Gabdrakhmanova L.J.
Semenova E.A.
Kulemin N.A.
Larin A.K.
Sultanov R.I.
Zhelankin A.V.
Haidukevich I.V.
Gilep I.L.
Akimov E.B.
Fuku N.
Miyamoto-Mikami E.
Tanaka M.
Miyachi M.
Murakami H.
Mitchell B.D.
Morrison E.
Ahmetov I.I.
Generozov E.V.
Filipenko M.L.
Gilep A.A.
Gineviciene V.
Moran C.N.
Venckunas T.
Cieszczyk P.
Derave W.
Papadimitriou I.
Garton F.C.
Padmanabhan S.
Pitsiladis Y.P.
Egorova E.S.
Gabdrakhmanova L.J.
Semenova E.A.
Kulemin N.A.
Larin A.K.
Sultanov R.I.
Zhelankin A.V.
Haidukevich I.V.
Gilep I.L.
Akimov E.B.
Author's Affiliation
Faculty of Science, Mahidol University
Juntendo University Graduate School of Medicine
Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency
Lithuanian Sports University
Ritsumeikan University Biwako-Kusatsu Campus
Akademia Wychowania Fizycznego i Sportu im. Jedrzeja Sniadeckiego w Gdansku
Institute of Chemical Biology and Fundamental Medicine, SB RAS
V.N. Orekhovich Research Institute of Biomedical Chemistry, Russian Academy of Medical Sciences
Kazan State Medical University
Vilniaus Universitetas
Institute of Bioorganic Chemistry of the National Academy of Sciences of Belarus
Universiteit Gent
Juntendo University
The University of Queensland
Plekhanov Russian University of Economics
Liverpool John Moores University
University of Stirling
Waseda University
Hong Kong Baptist University
University of Maryland School of Medicine
University of Brighton
Novosibirsk State University
College of Medical, Veterinary & Life Sciences
Volga Region State University of Physical Culture
Republican Scientific and Practical Center of Sports
Mental Health Associates
Diabetes Association of Jamaica
Juntendo University Graduate School of Medicine
Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency
Lithuanian Sports University
Ritsumeikan University Biwako-Kusatsu Campus
Akademia Wychowania Fizycznego i Sportu im. Jedrzeja Sniadeckiego w Gdansku
Institute of Chemical Biology and Fundamental Medicine, SB RAS
V.N. Orekhovich Research Institute of Biomedical Chemistry, Russian Academy of Medical Sciences
Kazan State Medical University
Vilniaus Universitetas
Institute of Bioorganic Chemistry of the National Academy of Sciences of Belarus
Universiteit Gent
Juntendo University
The University of Queensland
Plekhanov Russian University of Economics
Liverpool John Moores University
University of Stirling
Waseda University
Hong Kong Baptist University
University of Maryland School of Medicine
University of Brighton
Novosibirsk State University
College of Medical, Veterinary & Life Sciences
Volga Region State University of Physical Culture
Republican Scientific and Practical Center of Sports
Mental Health Associates
Diabetes Association of Jamaica
Corresponding Author(s)
Other Contributor(s)
Abstract
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.