Genomics of elite sporting performance: What little we know and necessary advances

Guan Wang, Sandosh Padmanabhan, Bernd Wolfarth, Noriyuki Fuku, Alejandro Lucia, Ildus I. Ahmetov, Pawel Cieszczyk, Malcolm Collins, Nir Eynon, Vassilis Klissouras, Alun Williams, Yannis Pitsiladis

Research output: Chapter in Book/Report/Conference proceedingChapter (Book)Researchpeer-review

48 Citations (Scopus)


Numerous reports of genetic associations with performance- and injury-related phenotypes have been published over the past three decades; these studies have employed primarily the candidate gene approach to identify genes that associate with elite performance or with variation in performance-and/or injury-related traits. Although generally with small effect sizes and heavily prone to type I statistic error, the number of candidate genetic variants that can potentially explain elite athletic status, injury predisposition, or indeed response to training will be much higher than that examined by numerous biotechnology companies. Priority should therefore be given to applying whole genome technology to sufficiently large study cohorts of world-class athletes with adequately measured phenotypes where it is possible to increase statistical power. Some of the elite athlete cohorts described in the literature might suffice, and collectively, these cohorts could be used for replication purposes. Genome-wide association studies are ongoing in some of these cohorts (i.e., Genathlete, Russian, Spanish, Japanese, United States, and Jamaican cohorts), and preliminary findings include the identification of one single nucleotide polymorphism (SNP; among more than a million SNPs analyzed) that associates with sprint performance in Japanese, American (i.e., African American), and Jamaican cohorts with a combined effect size of ~2.6 (P-value <5×10-7) and good concordance with endurance performance between select cohorts. Further replications of these signals in independent cohorts will be required, and any replicated SNPs will be taken forward for fine-mapping/targeted resequencing and functional studies to uncover the underlying biological mechanisms. Only after this lengthy and costly process will the true potential of genetic testing in sport be determined.

Original languageEnglish
Title of host publicationAdvances in Genetics
EditorsTheodore Friedmann, Jay C. Dunlap, Stephen F. Goodwin
Place of PublicationWaltham MA United States
PublisherAcademic Press
Number of pages27
ISBN (Print)9780124077034
Publication statusPublished - 2013
Externally publishedYes

Publication series

NameAdvances in Genetics
ISSN (Print)0065-2660


  • ACE/ACTN3 polymorphisms
  • Candidate gene association study
  • Complex trait
  • Elite performance
  • Genome-wide association study
  • Single nucleotide polymorphism

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