Review Article

Role of COL5A1 Gene Polymorphism (rs12722) in Lower Limb Musculoskeletal Injuries Among Adults - A Systematic Review and Meta-Analysis

Eleftheria Gkritzali^1,2, Elizabeth Akam¹, Sarabjit Mastana¹

1. School of Sport, Exercise and Health Sciences, Loughborough University, UK
2. School of Physical Education and Sports Science, Aristotle University of Thessaloniki, Greece

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Keywords: Col5A1 Gene, Meta-analysis, rs12722 Polymorphism, Musculoskeletal Injuries, Systematic review

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Abstract

Objective: Musculoskeletal injuries mainly occur in tendons and ligaments and their aetiology is tightly connected with genetic and environmental influences. This review and meta-analysis identifies and evaluates the potential association of the COL5A1 rs12722 polymorphism with lower limb musculoskeletal injuries in adults (18-60 years). Methods: Literature database searching (SCOPUS, Web of Science and PubMed) and screening provided nine studies for analysis. Data was extracted and interpreted by main injury types focusing on the genotype distribution (CC, CT, TT) of the rs12722 polymorphism. Meta-analysis was carried out using different modes of inheritance and injury sub-groups. Results: Many individual studies indicated no significant difference between cases and controls (p>0.05), but pooled data showed significant association of COL5A1 rs12722 polymorphism with lower limb musculoskeletal risk of injury (p=0.009). The meta-analysis showed a significant effect for the total sample for the recessive model of inheritance (OR =1.28 (CI 1.03-1.57, p=0.021) and ACLI (OR=1.31 (CI 1.03-1.67, p=0.026). Conclusions: The systematic review and meta-analyses confirm that T allele carriers (TT, CT) were more susceptible to injury, while the C allele is protective, decreasing the risk of injury.

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