PURPOSE: Three genome-wide association studies (GWAS) of elite Jamaican, African-American and Japanese sprint athletes and their matched controls were performed to identify common genetic variants associated with elite athlete status. METHODS: 95 Jamaican sprint athletes and 102 Jamaican controls, 108 African-American sprint athletes and 397 African-American controls, and 54 Japanese sprint athletes and 118 Japanese controls were genotyped using the Illumina®Human OmniExpress/Omni1-Quad BeadChips. Standard GWAS quality control (QC) and population stratification correction were applied to the genotype data. Genetic associations were evaluated by logistic regression/standard allelic association analysis. Meta-analyses were subsequently performed for single nucleotide polymorphisms (SNPs) with a predetermined threshold of 5 × 10-5for the three sprint GWAS sample sets using a fixed-effects model.
RESULTS: After QC, 609,801 autosomal SNPs in 88 Jamaican sprint athletes and 87 Jamaican controls, 637,991 autosomal SNPs in 79 African-American sprint athletes and 391 African-American controls, and 541,179 autosomal SNPs in 54 Japanese sprint athletes and 116 Japanese controls were available for analysis. The genomic inflation factor values were 1.075, 1.070 and 1.031 for Jamaican, African-American and Japanese GWAS sample sets, respectively. No SNPs exceeded the conventional GWAS significance threshold of 5x10-8 in respective cohorts. Two SNPs within the GALNT13(Pcombined= 4.66 × 10-7 for rs10196189) and theCREMgenes (Pcombined= 1.88 × 10-6 for rs1531550) attained P< 2 × 10-6 after meta-analysis. CONCLUSIONS: Two putative loci for elite sprint performance across Jamaicans, African-Americans and Japanese sprinters have been discovered using a GWAS approach followed by meta-analysis. These signals require further replication before functional dissection can be carried out.