Wang G., Padmanabhan S., Wolfarth B., Fuku N., Lucia A., Ahmetov I.I., Cieszczyk P., Collins M., Eynon N., Klissouras V., Williams A., Pitsiladis Y.
Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom; Department of Preventive and Rehabilitative Sports Medicine, Technical University Munich, Munich, Germany; Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan; European University and Research Institute i+12, Madrid, Spain; Sport Technology Education Research Laboratory, Volga Region State Academy of Physical Culture, Sport and Tourism, Kazan, Russian Federation; Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland; MRC/UCT Research Unit for Exercise Science and Sports Medicine of the Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Newlands, South Africa; Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, Australia; Department of Sport Medicine and Biology of Physical Activity, Faculty of Physical Education and Sport Science, University of Athens, Athens, Greece; Institute for Performance Research, Manchester Metropolitan University, Crewe, United Kingdom; School of Sport and Service Management, University of Brighton, Eastbourne, United Kingdom; The Skeletal Muscle and Performance Research Group, Murdoch Childrens Research Institute, Melbourne, Australia
Wang, G., Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom; Padmanabhan, S., Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom; Wolfarth, B., Department of Preventive and Rehabilitative Sports Medicine, Technical University Munich, Munich, Germany; Fuku, N., Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, Japan; Lucia, A., European University and Research Institute i+12, Madrid, Spain; Ahmetov, I.I., Sport Technology Education Research Laboratory, Volga Region State Academy of Physical Culture, Sport and Tourism, Kazan, Russian Federation; Cieszczyk, P., Department of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland; Collins, M., MRC/UCT Research Unit for Exercise Science and Sports Medicine of the Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Newlands, South Africa; Eynon, N., Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Melbourne, Australia, The Skeletal Muscle and Performance Research Group, Murdoch Childrens Research Institute, Melbourne, Australia; Klissouras, V., Department of Sport Medicine and Biology of Physical Activity, Faculty of Physical Education and Sport Science, University of Athens, Athens, Greece; Williams, A., Institute for Performance Research, Manchester Metropolitan University, Crewe, United Kingdom; Pitsiladis, Y., Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, United Kingdom, School of Sport and Service Management, University of Brighton, Eastbourne, United Kingdom
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. © 2013 Elsevier Inc.