SNP Diagnosis in Elite Athletes by Korean Athletic Performance

PURPOSE The purpose of this study is to analyze SNPs related to performance (maximal strength vs. cardiovascular endurance) of world-class Korean elite athletes using the Genome-Wide Human SNP Array 6.0 and to determine genotypes related to maximal strength and cardiovascular endurance performance that are unique to “ Koreans”. METHODS Using the Genome-Wide Human SNP Array 6.0, we analyzed SNPs obtained from 54 world-class Korean elite athletes (Olympic participants/World Championship medalists). The group was divided into the 16 maximal strength group (12 males and 4 females weightlifters who had won medals at the Olympic and World Championships), 12 cardiovascular endurance group (12 males marathon runners who had run within 2 hours and 12 minutes in international competitions), and 26 individuals from the general population (25 males and 1 female). All the obtained SNPs were subjected to quality control (QC), and a total of 867,982 SNPs were analyzed between the marathon runners and general population subjects (641,040 SNPs) and between weightlifters and general population subjects (634,418 SNPs). RESULTS The number of SNPs with more than two SNPs within 100 kb, which satisfied the threshold of sample QC and significance level of p<.0001, was 60 in marathoners and 18 in weightlifters compared to the general population subjects. When the genomic features of SNPs of each performance trait were analyzed, the 60 SNPs for cardiovascular endurance with two or more SNPs within 100 kb that met the p<.0001 threshold for significance were distributed across 15 regions, and the 18 SNPs for maximal strength were distributed across 7 regions. CONCLUSIONS In conclusion, SNPs related to cardiovascular endurance and maximal strength suggest the possibility of producing gene chips to derive genotypes unique to “ Koreans” in the future. Additionally, this study provides important basic data for further research.