Abstract
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 1 M 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 × 10-8), which located in 15q21.3 (rs17240160, P = 1.73 × 10-9, GCOM1), 3q25.31 (rs819865, P = 8.56 × 10-9, GMPS), 21q22.3 (rs117828698, P = 9.59 × 10-9, COL18A1), and 17q24.2 (rs79806428, P = 3.85 × 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.
Highlights
It has been accepted in the past decade that genetic traits are strongly associated with human physical performance
Other data showed that the NFIA-AS2 rs1572312, TSHR rs7144481 and RBFOX1 rs7191721 polymorphisms were associated with aerobic performance and elite endurance athlete status[10]
By using genome-wide association study (GWAS) approach, this study aimed to investigate the association between multiple single nucleotide polymorphisms (SNPs) and traits of cardiorespiratory fitness and endurance performance in Chinese non-athlete female individuals
Summary
It has been accepted in the past decade that genetic traits are strongly associated with human physical performance. Despite the increasing availability of commercial genetic tests, the currently available data suggest the use of the information provided by these tests for talent identification or selection is unfounded; a far greater number of performance-enhancing polymorphisms need to be both discovered and replicated in subsequent studies[17], including research on different non-athletic populations. The genome-wide association study (GWAS) on cardiorespiratory fitness and endurance performance for Chinese non-athlete young females is still lacking. Based on these considerations, we hypothesized there were CRF-related genetic variants in some genetic loci that possibly indicated the polygenetic nature of CRF and aerobic performance. By using GWAS approach, this study aimed to investigate the association between multiple single nucleotide polymorphisms (SNPs) and traits of cardiorespiratory fitness and endurance performance in Chinese non-athlete female individuals
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