Athlome Project Consortium: a concerted effort to discover genomic and other “omic” markers of athletic performance

Abstract

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 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 association is often smaller than initially anticipated, and, as such, large sample sizes are required to identify the gene effects robustly. A symposium was held in Athens and on the Greek island of Santorini from 14–17 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., ELITE, 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.

Lack of association between genotype score and sprint/power performance in the Japanese population

“…15 A flow diagram displaying information about the subject selection process in this study is shown in Supplemental Figure 1. The present study included 211 Japanese sprint/power track and field athletes (179 men and 32 women) and 649 Japanese nonathletic controls (184 men and 465 women).…”

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

“…While exercising, skeletal muscle is challenged to fulfill the mechanical and metabolic demands of contraction, with subsequent increases in its energy expenditure (Hawley, Hargreaves, Joyner, & Zierath, ). Environmental effects such as nutrition, physical activity, and ethnicity all influence performance (Pitsiladis et al., ). Genetic differences also influence skeletal muscle's ability to produce and utilize energy during exercise (Yan, Papadimitriou, Lidor, & Eynon, ) and as such, they might affect training adaptations and athletic performance.…”

Role of genetic markers in sport and recreational physical activity

“…e ful llment of great expectations in sports science and medicine from Athlome project, collaborative research project that began in 2015 involving a large number of subjects and based on GWAS studies, will depend largely on bioinformatics interpretation of complex data that will be collected from many analysis during this project. ese results may contribute to a number of new ndings in genetics and genomics of sport and exercise (Pitsiladis, et al, 2016).…”

“…Испуњење великих оче-кивања у спортској науци и медицини од Athlome пројекта, великог колаборативног научног про-јекта који је започео 2015 и у који је укључен ве-лики број испитаника и који је заснован на GWAS студијама, зависиће у највећој мери од биоин-форматичке интерпретације комплексних пода-така који ће се скупити бројним анализама током овог пројекта. Ови резултати би могли допринети бројним новим сазнањима у генетици и геномици спорта и вежбања (Pitsiladis, et al, 2016).…”