KCNJ11 GENE POLYMORPHISM AND ELITE ENDURANCE ATHLETE STATUS

The K+ inwardly rectifying channel of the subfamily J member 11 (KCNJ11) gene is widely expressed in cardiac, vascular-smooth and skeletal muscles. These tissues are highly relevant in cardiorespiratory endurance. PURPOSE to examine the possible association between a KCNJ11 gene polymorphism and elite endurance athlete (EEA) status. METHODS We examined the DNA of 184 male EEA (VO2max ≥ 75 ml/kg/min) and 113 male controls (CON; VO2max ≤ 49 ml/kg/min). Subject in both groups were matched by country of origin. Polymerase chain reaction amplification targeted a region of 267 base pairs, in codon 23, which included the polymorphic site (C→T transition; glutamate→lysine). RESULTS The three expected KCNJ11-BanII genotypes were observed in the EEA and CON. Allelic frequencies (EEA; C = 61%, T = 39% and CON; C = 50%, T = 50%) were significantly different between groups (χ2 = 6.2, df = 1, P = 0.01). Genotypic frequencies (EEA; CC = 37%, CT = 48%, TT = 15% and CON; CC = 29%, CT = 43%, TT = 28%) were also significantly different between EEA and CON (χ2 = 7.6, df = 2, P = 0.02). CONCLUSION Thse findings suggest that DNA sequence variation in the KCNJ11 gene is part of the complex genotype associated with the elite endurance athlete status. Supported by CRC-RCMI UPR-MSC Grant #1P20RR11126, RCMI Basic Sciences #G12RR03051 and MBRS-RISE R25GM61838.