Abstract:The purpose of this study was to examine the association of the BstUI RFLP C/T (rs 12722) and DpnII RFLP C/T (rs 13946) COL5A1 polymorphisms, individually and as haplotypes, with anterior cruciate ligament ruptures in recreational skiers. Subjects were 138 male recreational skiers with surgically diagnosed primary anterior cruciate ligament ruptures. The control group consisted of 183 apparently healthy male recreational skiers, who were without any self-reported history of ligament or tendon injury. DNA was e… Show more
“…Figure 1 outlines the study selection process in a flowchart following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. A total of 281 citations during the initial search was subjected to a series of omissions that eventually yielded eight articles for inclusion [ 25 – 32 ]. Fig.…”
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.
“…Figure 1 outlines the study selection process in a flowchart following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. A total of 281 citations during the initial search was subjected to a series of omissions that eventually yielded eight articles for inclusion [ 25 – 32 ]. Fig.…”
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.
“…In the recent years, a number of studies have examined the associations between ACL rupture and various genetic variants, highlighting the importance of genetic predisposition as a risk fac-tor in ACL rupture. [18][19][20][21] Due to their biological functions, the genes encoding ECM glycoproteins are promising candidates for modulation of the risk of musculoskeletal soft tissues injuries.…”
Section: Discussionmentioning
confidence: 99%
“…17 Recent studies have highlighted the involvement of several sequence variants within genes encoding macromolecules present in the extracellular matrix of ligaments and tendons. [18][19][20] Initially, a familial predisposition for ACL injury was uncovered suggesting that patients with an ACL rupture were twice as likely to have a relative with the same ligament damage 22 ; studies in twins have also confirmed that assumption. 23 Understanding the causes and molecular mechanisms underpinning ACL injury in conjunction with knowledge of contributing risk factors is pivotal to the prevention of ACL ruptures.…”
a b s t r a c tObjectives: To investigate the role of inter-individual variations in a particular glycoprotein, TNC, and its potential contribution to anterior cruciate ligament (ACL) injury susceptibility in Polish Caucasian participants. ACL rupture is one of the most prevalent and severe knee injury that predominantly occurs during sports participation, primarily via a non-contact mechanism. Several polymorphisms in genes encoding glycoproteins either independently or as allelic combinations, modulate the risk of musculoskeletal soft tissue injuries. Specifically, the TNC rs1330363 (C > T), rs2104772 (T > A) and rs13321 (G > C) variants, independently or in haplotype combinations, were analysed in this context. Design: Case-control genetic association study. Methods: A group of 421 physically active, unrelated participants were recruited where 229 individuals with surgically diagnosed primary ACL rupture and 192 apparently healthy participants without any history of ACL injuries. Participants were genotyped for the above variants. Results: Genotype and allele frequencies of TNC variants did not differ between cases and controls. Haplotype analysis revealed no association between TNC and predisposition to ACL rupture. Conclusions: Our analyses did not reveal a significant association between these TNC variants and risk of ACL rupture in Polish Caucasian participants.
“…Other loci within the 3′-UTR were independently associated with tendon injury. 1 In addition to an association with tendon injury, COL5A1 has been linked to inherited musculoskeletal disorders such as Ehlers-Danlos, 51 acquired injuries such as ACL tears, 62 , 76 and overall joint range of motion. 18 …”
Section: Discussionmentioning
confidence: 99%
“…75 The genes often involve structural proteins, such as collagen, or the repair process, such as matrix metalloproteinases (MMPs) or components of the apoptosis pathway. 38 For example, type V collagen A1 (COL5A1) has been associated with anterior cruciate ligament (ACL) tears, 62 , 76 while MMP3 has been associated with arthritis. 11 , 34 …”
Background:Tendon injury such as tendinopathy or rupture is common and has multiple etiologies, including both intrinsic and extrinsic factors. The genetic influence on susceptibility to tendon injury is not well understood.Purpose:To analyze the published literature regarding genetic factors associated with tendon injury.Study Design:Systematic review; Level of evidence, 3.Methods:A systematic review of published literature was performed in concordance with the Preferred Reporting Items of Systematic Reviews and Meta-analysis (PRISMA) guidelines to identify current evidence for genetic predisposition to tendon injury. PubMed, Ovid, and ScienceDirect databases were searched. Studies were included for review if they specifically addressed genetic factors and tendon injuries in humans. Reviews, animal studies, or studies evaluating the influence of posttranscription factors and modifications (eg, proteins) were excluded.Results:Overall, 460 studies were available for initial review. After application of inclusion and exclusion criteria, 11 articles were ultimately included for qualitative synthesis. Upon screening of references of these 11 articles, an additional 15 studies were included in the final review, for a total of 26 studies. The genetic factors with the strongest evidence of association with tendon injury were those involving type V collagen A1, tenascin-C, matrix metalloproteinase–3, and estrogen-related receptor beta.Conclusion:The published literature is limited to relatively homogenous populations, with only level 3 and level 4 data. Additional research is needed to make further conclusions about the genetic factors involved in tendon injury.
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