Genetics of sport performance

João Bosco PesqueroChair: João Bosco Pesquero (BRA) - Department of Biophysics at Federal University of São Paulo, São Paulo, Brazil.


Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition and elite/world-class athletic status, there has been limited progress. Because of the reliance on candidate gene analyses, involving a small number of single nucleotide polymorphisms (SNPs) and structural variants (eg, the commonly studied insertion/deletion polymorphisms) coordinated research efforts are needed. New approaches involving large, well-funded consortia and utilising well-phenotyped large cohorts and genome-wide technologies will be necessary for meaningful progress to be made. In order to plan and develop this capacity, a first of a kind symposium was held on the Greek island of Santorini from 14-17th May 2015 ( to review the most significant findings in “omics” technologies with particular applications in sports medicine and sport science and to explore future trends and possibilities, including a Position Stand/Santorini Declaration. Participants were identified in view of enhancing existing studies (eg, PowerGene, Genesis, GAMES and GeneSmart) by assimilating all previous and current initiatives into one new global consortium, the Athlome Project Consortium, to move the field forward significantly. The main aim of the Athlome project is to characterize the genetics and biology of exercise performance, as a platform to understanding healthy body function and major chronic disease conditions (i.e., Cardiovascular disease, Obesity, Type 2 Diabetes ect.). The Athlome project captures genotype and phenotype data of elite athletes, adaptation to exercise training (in both human and animal models), and muscle-related injuries from excising studies and consortiums worldwide. To achieve this ambitious goal, different approaches will be used including (but not limited to) genome-wide association studies (GWAS), whole exome sequencing, RNA sequencing, genotype-phenotype association, and epigenetic analyses. Particular priority will also be given to tissue-specific and systemic “omics” analysis (such as transcriptomics in the first instance) to develop personalized medicine applications including “intelligent training” and the discovery of “omics” signatures of doping.


Jane Seto1.Jane Seto (AUS) - Murdoch Childrens Research Institute, Australia.

Title Presentation: A gene for speed: ACTN3, athletes and human health

Masashi Tanaka2.Masashi Tanaka (JPN) - Director, Department of Clinical Laboratory, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan.

Title Presentation: The 1000 Athlomes Project: An initiative for whole genome sequencing of elite athletes

Yannis Pitsiladis3.Yannis Pitsiladis (GRC) - FIMS Reference Collaborating Centre of Sports Medicine for Anti-Doping Research, University of Brighton, Eastbourne, United Kingdom.

Title Presentation: Genomics of elite sporting performance: The Human Athlome Project