We are releasing the summary data from our genome-wide meta analyses of athletes and controls, in order to enable other researchers to examine particular variants or loci of their interest for association with these traits.
When using data from the downloadable meta-analyses results please acknowledge the source of the data as follows: "Athlete genome data has been contributed by Athlome Consortium Investigators and have been downloaded from www.athlomeconsortium.org".
In addition to the above acknowledgement, please cite the relevant paper.
The GAMES Consortium data was established by combining two study cohorts (GENATHLETE and Japanese endurance athlete cohort) results from their genome-wide association analyses. Genome-wide association studies were undertaken on two cohorts of elite endurance athletes and controls (GENATHLETE and Japanese endurance runners), from which a panel of 45 promising markers was identified. These markers were tested for replication in seven additional cohorts of endurance athletes and controls: from Australia, Ethiopia, Japan, Kenya, Poland, Russia and Spain. The files available here refer to the GWAS discovery data only. The original athlete data are controlled by the Principle Investigator of each study. Interested scientists may contact these investigators directly and/or Claude Bouchard who will facilitate the interactions with the investigators of the contributing studies.
Cohorts and Methods: Briefly, GENATHLETE consisted of 315 elite endurance male athletes (national and world-class level) from Germany, Finland, Canada and the USA plus 320 sedentary controls from the same countries (matched for ethnicity and country of origin). The mean highest recorded VO2max of these athletes was 79 mL O2/kg/min with a standard deviation (SD) of 3.4 mL O2 while the mean value for the sedentary controls was 40.0 (SD = 7.1). Genomic DNA was extracted from blood samples by extraction kits (Gentra Systems, Inc., Minneapolis, MN), and diluted to 50 ng/μl. SNPs were captured in the Illumina CardioMetabochip (Illumina Inc., San Diego, CA), which contains over 195,000 genetic markers including ~66,000 variants implicated in the aetiology of cardiometabolic traits and disease outcomes from discovery GWAS cohorts, as well as variants around known loci for the purposes of fine-mapping. The SNPs were genotyped using the Illumina Infinium II assay on Illumina iScan platform. In the Japanese sample, 60 Japanese elite runners (world-class athletes) and 116 controls were available for the discovery phase. For the Japanese cohort, total DNA was isolated from saliva or venous blood by use of QIAamp DNA blood Maxi Kit (QIAGEN, Hilden, Germany) or Oragene DNA Collection Kits (DNA genotek, Ontario, Canada), respectively. Total DNA samples were genotyped for more than 700,000 markers using the Illumina® HumanOmniExpress Beadchip. After removing SNPs failing quality control, 541,179 autosomal SNPs in 60 Japanese endurance athletes and 116 Japanese controls were available for association analyses.
Results: None of the SNPs reached genome-wide significance level (p<5 x 10−8) in GENATHLETE or the Japanese Study. Considering that this may be simply the result of the relatively small sample size of the discovery cohorts, we elected to retain the 45 most promising SNPs (all p<1 x 10−4) for further testing in the replication studies. Among these 45 SNPs, 26 came from GENATHLETE CardioMetabochip (13 based on full cohort, 13 from the highest VO2max subgroup analyses) and 19 from the Japanese GWAS.
GWAS discovery data sets (GENATHLETE and Japanese endurance runners) in PLINK format.