Association Study Of COL5A1Gene Polymorphism With Aerobic Performance

The aim of this study was to examine the association between the polymorphisms in COL5A1(rs12722, rs13946) gene and aerobic performance.Part I:Association study of COL5A1gene with elite aerobic performance.Subjects:201endurance athletes and337controlsMethods:The case-control studies were to analyze the gene polymorphisms characteristic, comparing the genotype and allele frequencies between endurance athletes and controls. These polymorphisms were located in COL5A1(rs12722, rs13946).Results:1) There was no significantly difference between the long-distance runners and controls for the genotype of COL5A1SNP rsl2722(p>0.05), while the T allele of COL5A1rs12722polymorphism was overrepresented in marathon athletes(34.4%) compared with controls(26.2%)(p=0.021).2) There was no significantly difference between the long-distance runners and controls for either the genotype or allele frequencies of COL5A1SNP rsl3946(p>0.05).Part II:Association study of COL5A1gene with aerobic phenotypes.Subjects:60elite female long-distance runnersMethods:The cross-sectional association studies were used to explore the genetic markers for aerobic phenotypes, through the association analysis between the genotype, allele frequencies and the aerobic phenotypes.Results:1) COL5A1gene polymorphism(rs12722) was associated with ATV02 and ATV02/kg, as carriers of the TT genotype had higher levels of ATV02and ATV02/kg than the CC, CT group.2) COL5A1gene polymorphism(rs13946) was not associated with the fractional utilisation of V02max, relevant indicators of V02max or relevant indicators of lung function.3) The carriers of TC haplotype (rsl3946-rsl2722) had higher levels of ATV02and ATV02/kg than the non-carriers.Conclusion:1) For COL5A1, the T allele (rs12722) might be served as molecular marker of Chinese marathon athlete.2) The TT genotype of rs12722might be the genetic markers in predicting the aerobic phenotypes of ATV02and ATV02/kg in elite female athletes.3) The TC haplotype might be the genetic markers in predicting the aerobic phenotypes of ATVO2and ATV02/kg in elite female athletes.