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PGC ‐related gene variants and elite endurance athletic status in a C hinese cohort: A functional study
Author(s) -
He ZH.,
Hu Y.,
Li YC.,
Gong LJ.,
Cieszczyk P.,
MaciejewskaKarlowska A.,
LeonskaDuniec A.,
Muniesa C. A.,
MarínPeiro M.,
Santiago C.,
Garatachea N.,
Ey N.,
Lucia A.
Publication year - 2015
Publication title -
scandinavian journal of medicine and science in sports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.575
H-Index - 115
eISSN - 1600-0838
pISSN - 0905-7188
DOI - 10.1111/sms.12188
Subject(s) - single nucleotide polymorphism , snp , genotype , ppargc1a , allele , cohort , endurance training , genetics , population , biology , medicine , gene , coactivator , environmental health , transcription factor
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.