N. Eynon and J. R. Ruiz contributed equally to this work.
Genes and elite athletes: a roadmap for future research
Article first published online: 29 JUN 2011
© 2011 The Authors. Journal compilation © 2011 The Physiological Society
The Journal of Physiology
Volume 589, Issue 13, pages 3063–3070, July 2011
How to Cite
Eynon, N., Ruiz, J. R., Oliveira, J., Duarte, J. A., Birk, R. and Lucia, A. (2011), Genes and elite athletes: a roadmap for future research. The Journal of Physiology, 589: 3063–3070. doi: 10.1113/jphysiol.2011.207035
- Issue published online: 29 JUN 2011
- Article first published online: 29 JUN 2011
- (Received 7 February 2011; accepted after revision 3 May 2011; first published online 3 May 2011)
Abstract There is compelling evidence that genetic factors influence several phenotype traits related to physical performance and training response as well as to elite athletic status. Previous case-control studies showed that ∼20 genetic variants seem to be associated with elite endurance athletic status. The present review aims to introduce novel methodological approaches in the field of sports genetics research, which can be applied in the near future to analyse the genotype profile associated with elite athletic status. These include genotype–phenotype association studies using gene expression analysis, analysis of post-transcriptional factors, particularly microRNAs, genome-wide scan linkage or genome-wide association studies, and novel algorithm approaches, such as ‘genotype scores’. Several gaps in the current body of knowledge have been indentified including, among others: small sample size of most athletic cohorts, lack of corroboration with replication cohorts of different ethnic backgrounds (particularly, made up of non-Caucasian athletes), the need of research accounting for the potential role of epigenetics in elite athletic performance, and also the need for future models that take into account the association between athletic status and complex gene–gene and gene–environment interactions. Some recommendations are provided to minimize research limitations in the field of sport genetics.