ASSOCIATION BETWEEN COL5A1, COL11A1, AND COL11A2 GENE VARIATIONS AND ROTATOR CUFF TENDINOPATHY IN YOUNG ATHLETES

Y. Alakhdar¹, J.M. Belasco Igual¹, J.C. Benitez Martinez¹, F. Hanna², J. Cook³

¹University of Valencia, Physiotherapy, Valencia, Spain, ²University of Valencia, Valencia, Spain, ³La Trobe, Melbourne, Australia

Background: 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.

Purpose: The aim of this study was to test for a relationship between certain collagen gene single nucleotide polymorphisms (SNPs) and elbow tendon pathology

Methods: In this case-control study, 137 young adult athletes whose sports participation involves loading of the upper limb were examined for the presence of structural abnormalities indicative of pathology in the tendons of the lateral and medial elbow using ultrasound imaging and genotyped for the following SNPs: COL11A1 rs3753841, COL11A1 rs1676486, and COL11A2 rs1799907. Anthropometric measurements and data on participants’ elbow pain and dysfunction were also collected

Results: A direct relationship between CC genotype and bilateral US pathological images was statistically significant (x2 5 0.0051) and confirmed by the Fisher test, with a correlation coefficient of 0.345 and a Cramer’s v of 0.26.

Conclusions: A significant association was found between COL5a1 rs12722 genotype and rotator cuff pathology, with theCCgenotype conferring increased risk of tendon abnormalities and being associated with rotator cuff pathology.

Implications: The results of this study also offer several practical implications which could be taken into account by clinicians. For one, participants with elbow tendons classified as pathological using ultrasound imaging reported significantly higher levels of elbow pain and dysfunction; this serves as additional support in the use of ultrasound imaging as a reliable method to diagnose tendon pathology, even when symptoms are ambiguous.

Funding acknowledgements: Non Funding

Keywords:
Tendon injury
Polymorphism
Rotator cuff

Topics:
Musculoskeletal: upper limb
Sport & sports injuries
Musculoskeletal

Did this work require ethics approval? Yes

Institution: University of Valencia

Committee: Human Research Ethics Committee of the University of Valencia

Ethics number: H1409657453224