Association of COL5A1 gene polymorphisms and risk of tendon-ligament injuries among Caucasians: a meta-analysis

Abstract

BackgroundTendons and ligaments are common sites of musculoskeletal injuries especially during physical activity. The multifactorial etiology of tendon-ligament injury (TLI) includes both genetic and environmental factors. The genetic component could render influence on TLI risk to be either elevation or reduction.ObjectiveInconsistency of reported associations of the collagen type V alpha 1 chain (COL5A1) polymorphisms, mainly rs12722 (BstUI) and rs13946 (DpnII), with TLI warrant a meta-analysis to determine more precise pooled associations.MethodsMulti-database literature search yielded eight articles (11 studies) for inclusion. Pooled odds ratios (ORs) and 95% confidence intervals were used to estimate associations. Heterogeneity of outcomes warranted examining their sources with outlier treatment.ResultsAll rs12722 effects indicated reduced risk (OR < 1.0). The significant outcomes (ORs 0.59–0.77, p = 0.0009–0.04) in the pre-outlier analysis were non-heterogeneous (p > 0.10). The non-significant and heterogeneous (ORs 0.63–0.98, p = 0.13–0.95; up to I2 = 86%) pre-outlier rs12722 and rs13946 results became significant (ORs 0.32–0.78, p = 10−5−0.01) and heterogeneity eliminated (I2 = 0%) with outlier treatment. Significant associations (ORs 0.26–0.65, p = 0.002–0.03) were also observed in other COL5A1 polymorphisms (rs71746744 and rs16399). Sensitivity analysis deemed all significant outcomes to be robust.ConclusionsIn summary, COL5A1 polymorphisms reduce the risk of TLI among Caucasians. These findings are based on the evidence of significance, homogeneity, consistency, and robustness. Additional studies are warranted to draw more comprehensive conclusions.Electronic supplementary materialThe online version of this article (10.1186/s40798-018-0161-0) contains supplementary material, which is available to authorized users.

COL5A1 RS12722 Is Associated with Temporomandibular Joint Anterior Disc Displacement without Reduction in Polish Caucasians

“…Furthermore, in the case of rs13946, patients with genotypes CC and CT (OR = 0.5668 and 0.641, respectively) seem less predisposed to ADDwoR than TT. Our observations are convergent with Pabalan et al's meta-analysis, where reduced risk effects on tendon-ligament injury among Caucasians were significant in rs12722 but not in rs13946 [26].…”

Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies

“…Collagen type V alpha 1 chain is encoded by the COL5A1 gene, significantly overexpressed in MPS IIIC. This collagen type plays a significant role in functions of the connective tissue [35], and, thus, abnormal expression of COL5A1 may contribute to impairment of these functions.…”

The patellar ligament: A comprehensive review

“…A meta‐analysis of previous studies on the COL5A1 gene supported the role of COL5A1 polymorphisms in tendinous injuries (Pabalan et al, 2018). Polymorphisms in the rs12722 locus and the rs13946 locus have been associated with reduced risk of tendinous injuries to 55% and 68%, respectively (Pabalan et al, 2018). The association between these polymorphisms, changes in collagen composition, and changes in the risk of tendon strain injuries in other major extensor tendons, such as the Achilles, quadriceps femoris tendons, could implicate these polymorphisms in changes in risk for PL injury.…”

“…Because type V collagen is a component of type I collagen fibers, polymorphisms at this locus are linked to downstream effects in the formation of type I collagen, thereby affecting the biomechanical qualities of tendon structure overall (Galasso et al, 2012). A meta-analysis of previous studies on the COL5A1 gene supported the role of COL5A1 polymorphisms in tendinous injuries (Pabalan et al, 2018). Polymorphisms in the rs12722 locus and the rs13946 locus have been associated with reduced risk of tendinous injuries to 55% and 68%, respectively (Pabalan et al, 2018).…”