Four Loci Are Associated with Cardiorespiratory Fitness and Endurance Performance in Young Chinese Females

Cardiorespiratory fitness (CRF) and endurance performance are characterized by a complex genetic trait with high heritability. Although research has identified many physiological and environmental correlates with CRF, the genetic architecture contributing to CRF remains unclear, especially in non-athlete population. A total of 762 Chinese young female participants were recruited and an endurance run test was used to determine CRF. We used a fixed model of genome-wide association studies (GWAS) for CRF. Genotyping was performed using the Affymetrix Axiom and illumina 1M arrays. After quality control and imputation, a linear regression-based association analysis was conducted using a total of 5,149,327 variants. Four loci associated with CRF were identified to reach genome-wide significance (P<5.0 x 10(-8)), which located in 15q21.3 (rs17240160, P=1.73 x 10(-9), GCOM1), 3q25.31 (rs819865, P=8.56 x 10(-9), GMPS), 21q22.3 (rs117828698, P=9.59 x 10(-9), COL18A1), and 17q24.2 (rs79806428, P=3.85 x 10(-8), PRKCA). These loci (GCOM1, GMPS, COL18A1 and PRKCA) associated with cardiorespiratory fitness and endurance performance in Chinese non-athlete young females. Our results suggest that these gene polymorphisms provide further genetic evidence for the polygenetic nature of cardiorespiratory endurance and be used as genetic biomarkers for future research.