The Athlome Project Consortium

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 to date. Past reliance on candidate gene studies predominantly focusing on genotyping a limited number of single nucleotide polymorphisms (SNPs) or the insertion/deletion variants in small, often heterogeneous cohorts (i.e., made up of athletes of quite different sport specialties) have not generated the kind of results that could offer solid opportunities to bridge the gap between basic research in exercise sciences and deliverables in biomedicine. A retrospective view of genetic association studies with complex disease traits indicates that transition to hypothesis-free genome-wide approaches will be more fruitful. In studies of complex disease, it is well recognized that the magnitude of genetic associations is often smaller than initially anticipated and, as such, large sample sizes are required to identify them robustly. Thus, alternative approaches involving large-scale, collaborative efforts, within which high-resolution genome-wide data is generated and interrogated using advanced bioinformatics approaches, are likely necessary for meaningful progress to be made. Accordingly, a symposium was held in Athens and on the Greek island of Santorini from 14-17th May 2015 ( to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium also offered a forum for the development of a position stand (the Santorini Declaration). Among the participants, many were involved in ongoing collaborative studies (e.g., GAMES, Gene SMART, GENESIS and POWERGENE). A consensus emerged among participants that it would be advantageous to bring together all current studies and those recently launched into one new large collaborative initiative, which was subsequently named the Athlome Project Consortium.

At the outset, the Athlome Project aims to collectively study the genotype and phenotype data currently available on elite athletes, in adaptation to exercise training (in both human and animal models) and on exercise-related musculoskeletal injuries from individual studies and from consortia worldwide. To achieve this, several steps are set out:

  1. To establish an ethically sound international research consortium (Athlome Project Consortium) and biobank resource systematically across individual centres;
  2. To discover genetic variants associated with exercise performance, adaptive response to exercise-training, and skeletal-muscle injuries using the genome-wide association study (GWAS) approach, targeted sequencing or whole genome sequencing, where possible;
  3. To validate and replicate the genetic markers from the discovery phase across sex and ethnicity; and
  4. To conduct functional investigations following replicated findings (e.g., study the replicated SNPs and their linkage disequilibrium regions, in vitro expression studies and knockouts of nearby genes) to better understand the associated biology.

During the development of the initial phase of the Athlome Project in determining the genetic variations related to elite athletic performance and injury predisposition, epigenomic, transcriptomic and proteomic analyses need also be carefully planned to strengthen the understanding of genes functions. Linking these findings with metabolic profiling (the end products of the cellular processes) is also a future aspiration of the Athlome Project. Another challenge is to be able to efficiently integrate the multiple “omics” datasets generated from the different approaches. The ultimate goal of the Athlome Project Consortium is to generate the ethically sound environment, interest and capacity needed to develop the specialist knowledge to inform personalised training and injury prevention, as well as doping detection. The following individual or collaborative studies have agreed to work together in the global partnership that constitutes the Athlome Project Consortium.

Athlome Project Consortium