The association of novel polymorphisms with stress fracture injury in elite athletes: further insights from the SFEA cohort

Abstract

Objective: To determine, in conjunction with a wider investigation, whether 11 genetic variants in the vicinity vitamin D, collagen and Wnt signalling pathways were associated with stress fracture injury in the Stress Fracture Elite Athlete (SFEA) cohort. Design: Genotype-phenotype association study. Method: Self-reported stress fracture history and demographic data were recorded in 518 elite athletes, 449 male and 69 female (mean age 24.2±5.5 y) from the SFEA cohort. Elite athletes were assigned to two groups based on history stress fracture injury. Data were analysed for the whole cohort and sub-stratified in male only and multiple stress fracture cases. Genotype was determined using a proprietary fluorescence-based competitive allele-specific polymerase chain reaction assay. Results: SOST SNP rs1877632 and VDR SNPs rs10735810 and rs731236 were associated with stress fracture (p0.05). Conclusions: These data suggest an important role for SOST SNP rs1877632 and VDR SNPs rs10735810 and rs731236 in the pathophysiology of stress fracture. This might be due to the role of the SNPs in the regulation of bone remodelling and adaptation to mechanical loading, with potential implications for the prevention and treatment of stress fracture