Association between COL5a1,COL11a1 and COL11a2 gene variation and rotators cuff tendinopathy in young athletes

Objective: Tendinopathy is a prevalent condition in young athletes and in older nonathletic people. Recent tendinopathy research has shown a growing interest in the role played by genetic factors, basically genes involved in collagen synthesis and regulation, in view of collagen disorganization typically present in tendon pathologies. Design: A case-control, genotype-phenotype association study. Setting: La Ribera Hospital, Valencia, Spain. Participants: A group of 137 young athletes (49 with rotator cuff tendon pathology and 88 healthy counterparts) who played upper-limb-loading sports were clinically and ultrasound (US) assessed for rotator cuff tendinopathy were included. Intervention: Genetic analysis was performed to determine whether there was a relationship between rotator cuff pathology and the genotype. Main outcome measures: We hypothesized that the following single nucleotide polymorphisms: COL5a1 rs12722, COL11a1 rs3753841, COL11a1 rs1676486, and COL11a2 rs1799907 would be associated with rotator cuff tendinopathy. Results: A direct relationship between CC genotype and bilateral US pathological images was statistically significant (χ2 = 0.0051) and confirmed by the Fisher test, with a correlation coefficient of 0.345 and a Cramer's v of 0.26. Conclusion: A significant association was found between COL5a1 rs12722 genotype and rotator cuff pathology, with the CC genotype conferring increased risk of tendon abnormalities and being associated with rotator cuff pathology.