Tendon and ligament injury-associated gene variants in elite rugby

Elite rugby has one of the highest reported injury incidences of any professional sport. Some of the most severe of all these injuries are to the tendon and ligament. The aetiology of these injuries is highly multi-factorial, with a growing body of evidence suggesting that some of the inter-individual variability in injury susceptibility may be due to genetic variation. However, little effort has been devoted to the study of genetic injury traits within rugby athletes. Consequently, the overall aim of the present thesis was to investigate genetic associations with elite athlete status and soft-tissue injury within an elite rugby population. Genotype data was collected from 1572 participants, consisting of 663 elite rugby athletes and 909 non-athletes. COLGALT1 rs8090, COL3A1 rs1800255, COL5A1 rs12722 and rs3196378, MIR608 rs4919510, MMP3 rs591058 and rs679620 and NID1 rs4660148 polymorphisms were independently associated with elite status in rugby. Furthermore, when all polymorphisms (COLGALT1 rs8090, COL1A1 rs1800012, COL3A1 rs1800255, COL5A1 rs12722 and rs3196378, KDR rs1870377, MIR608 rs4919510, MMP3 rs679620, rs591058, and rs650108, NID1 rs4660148, TIMP2 rs4789932 and VEGFA rs699947) were incorporated into a polygenic profile significant differences existed between elite rugby athletes and non-athletes which persisted across all sub- groups. Additionally, COL5A1 rs12722, MMP3 rs679620, NID1 rs4660148 and TIMP2 rs4789932 were associated with soft-tissue injury history in elite rugby athletes. These results identify novel genetic associations with elite status and soft-tissue injury in rugby. In conclusion, there appears to be genetic associations with elite athlete status and soft-tissue injury risk, potentially enabling career success. Further research is required to replicate the findings of this thesis in comparable and differing cohorts. Nonetheless, the work presented here has further enhanced the current understanding of genetic associations with elite status and soft-tissue injury, which may in future have implications on training and injury management in elite rugby athletes