PGC ‐related gene variants and elite endurance athletic status in a C hinese cohort: A functional study

This study aims to examine the association between proliferator‐activated receptor γ ( PGC )‐gene family‐related single nucleotide polymorphisms ( SNP s) and elite endurance runners' status in a C hinese cohort, and to gain insights into the functionality of a subset of SNPs . Genotype distributions of 133 SNP s in PPARGC1A , PPARGC1B , PPRC 1 , TFAM , TFB1M , TFB2M , NRF1 , GABPA , GABPB1 , ERR α , and SIRT 1 genes were compared between 235 elite C hinese ( H an) endurance runners (127 women) and 504 healthy non‐athletic controls (237 women). Luciferase gene reporter activity was determined in 20 SNP s. After adjusting for multiple comparisons (in which threshold P ‐value was set at 0.00041), no significant differences were found in allele/genotype frequencies between athletes and controls (when both sexes were analyzed either together or separately). The lowest P ‐value was found in PPARGC1A rs4697425 ( P  = 0.001 for the comparison of allele frequencies between elite female endurance runners and their gender‐matched controls). However, no association (all P  > 0.05) was observed for this SNP in a replication cohort from P oland (194 endurance athletes and 190 controls). Using functional genomics tool, the following SNP s were found to have functional significance: PPARGC1A rs6821591, rs12650562, rs12374310, rs4697425, rs13113110, and rs4452416; PPARGC1B rs251466 and rs17110586; and PPRC 1 rs17114388 (all P  < 0.001). This study found no significant association between PGC ‐related SNP s and elite endurance athlete status in the C hinese population, despite some SNP s showing potential functional significance and the strong biological rationale to hypothesize that this gene pathway is a candidate to influence endurance exercise capacity.