The genetic underpinnings of elite sprint performance remain largely elusive. For the first time, we uncovered rs10196189 (GALNT13) in the cross-ancestry, genome-wide analysis of elite sprint and power-oriented athletes and their controls from Jamaica, the USA, and Japan, and replicated this finding in two independent cohorts of elite European athletes (meta-analysis P < 5E-08). We identified statistically significant and borderline associations for cross-ancestry and ancestry specific loci in GALNT13, BOP1, HSF1, STXBP2 GRM7, MPRIP, ZFYVE28, CERS4, and ADAMTS18, predominantly expressed in the nervous and hematopoietic systems. Further, we revealed thirty-six previously uncharacterized genes associated with host defence, leukocyte migration, and cellular responses to interferon-gamma and unveiled (reprioritized) four genes, UQCRFS1, PTPN6, RALY and ZMYM4, responsible for aging, neurological conditions, and blood disorders from the elite athletic performance cohorts. Our results provide new biological insights into elite sprint performance and offer clues to the potential molecular mechanisms interlinking and operating in elite athletic performance and human health and disease.

The authors have declared no competing interest.

The GWAS genotyping work was funded by JSPS KAKENHI grant no. 15H03081 and 22H03486 to N.F. Genotyping replication in the Belorussian samples was funded by the framework of the Program for Basic Research in the Russian Federation for a long-term period (2021-2030) grant no. 122030100168-2 to A.A.G. The additional 350 African American controls were drawn from the Genetics of Early Onset Stroke (GEOS) Study, with funding support from NIH U01 HG-004436 to B.D.M.

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

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The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

Ethics Committee of the University of West Indies, Jamaica (protocol number: ECP 121, 2006/2007), the Institutional Review Board of Florida State University, USA (D5.158), the Institutional Review Board of Juntendo University, Japan (SHSS 2022-137), the Institutional Review Board of Tokyo Metropolitan Institute of Gerontology, Japan (TMIG 19-3784), the Institutional Review Board of the National Institute of Health and Nutrition, Japan (KENEI 2-09) Japan, the Bioethics Commission of Institute of Bioorganic Chemistry of the National Academy of Sciences of the Republic of Belarus, Belarus (2017/03), the Lithuanian Bioethics Committee, Lithuania (69-99-111), the Ethics Committee of the Federal Research and Clinical Center of Physical-Chemical Medicine of the Federal Medical and Biological Agency of Russia, Russia (2017/04), the Institutional Review Board of the Children's Hospital at Westmead, Australia (2003/086), the Royal Children's Hospital Human Research Ethics Committee, Australia (35172), the Ethical Committee of Ghent University Hospital, Belgium (B67020097348), Aristotle University of Thessaloniki Research Committee, Greece (1895), and the Pomeranian Medical University Ethics Committee, Poland (BN-001/45/08) approved for this work.

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Yes

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I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

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Access to all the elite athletic performance cohorts may be limited by participant consent and data sharing agreements; requests should be directed in the first instance via the corresponding authors. All other data are available in the main text or the supplementary materials.