Bone Mineral Density and Associated Genetic Variants in High-level Caucasian Marathon Runners

INTRODUCTION:Endurance runners (except those who may have low energy availability) tend to have higher total and/or loading site-specific bone mineral density (BMD) in comparison with non-athletes, most likely due to the larger volume of exercise completed. A large genetic component also contributes to BMD, although little is known about which specific genes are involved, whether particular genotypes are sensitive to mechanical loading and the impact of such an interaction on BMD. This study investigated if high-level endurance runners possess enhanced BMD associated with an “advantageous” genetic predisposition, via a potential gene-physical activity interaction.METHODS:Age- and weight-adjusted total BMD (TBMD) and leg BMD (LBMD) measured via Dual-energy X-ray absorptiometry of 67 high-level Caucasian marathon runners (males < 2 h 45 min, n = 37; females < 3 15 min, n = 30) was compared with 40 male and 26 female non-athletes. LRP5 rs3736228, TNFRSF11B rs4355801, VDR rs2228570, WNT16 rs3801387 and AXIN1 rs9921222 variants were then investigated singularly, and collectively, as a total genotype score (TGS) via multivariate analysis of variance in a subgroup of this cohort (male runners n = 19, controls n = 26; female runners n = 17, controls n = 14). RESULTS:Male runners had higher TBMD (1.34 vs 1.28 g/cm2; P=0.02) and LBMD (1.53 vs 1.42 g/cm2; P=