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British Medical Bulletin Advance Access published online on February 9, 2009
British Medical Bulletin, doi:10.1093/bmb/ldp007
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© The Author 2009. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Genetics and sports

Giuseppe Lippi{dagger}, Umile Giuseppe Longo{ddagger} and Nicola Maffulli*,¶

{dagger} Sezione di Chimica Clinica, Università di Verona, Italy
{ddagger} Department of Orthopaedic and Trauma Surgery, Campus Biomedico University, Via Longoni, 83, 00155 Rome, Italy
Department of Trauma and Orthopaedic Surgery, Keele University School of Medicine, UK

* Correspondence to: N. Maffulli, Department of Trauma and Orthopaedic Surgery, Keele University School of Medicine, UK. E-mail:n.maffulli{at}qmul.ac.uk, n.maffulli{at}keele.ac.uk

Introduction: The limit of each individual to perform a given type of exercise depends on the nature of the task, and is influenced by a variety of factors, including psychology, environment and genetic make up. Genetics provide useful insights, as sport performances can be ultimately defined as a polygenic trait.

Sources of data: We searched PubMed using the terms ‘sports’ and ‘genetics’ over the period 1990 to present.

Areas of agreement: The physical performance phenotypes for which a genetic basis can be suspected include endurance capacity, muscle performance, physiological attitude to train and ability of tendons and ligaments to withstand injury. Genetic testing in sport would permit to identify individuals with optimal physiology and morphology, and also those with a greater capacity to respond/adapt to training and a lesser chance of suffering from injuries.

Areas of controversy: Ethical and practical caveats should be clearly emphasized. The translation of an advantageous genotype into a champion's phenotype is still influenced by environmental, psychological and sociological factors.

Emerging areas for developing research: The current scientific evidence on the relationship between genetics and sports look promising. There is a need for additional studies to determine whether genome-wide genotyping arrays would be really useful and cost-effective. Since exercise training regulates the expression of genes encoding various enzymes in muscle and other tissues, genetic research in sports will help clarify several aspects of human biology and physiology, such as RNA and protein level regulation under specific circumstances.

Keywords: athletic performance • genetics • sports

Accepted for publication January 19, 2009.


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