Does the A9285g Polymorphism in Collagen Type XII α1 Gene Associate with the Risk of Anterior Cruciate Ligament Ruptures?

Ficek, Krzysztof; Stępień–Słodkowska, Marta; Kaczmarczyk, Mariusz; Maciejewska-Karłowska, Agnieszka; Sawczuk, Marek; Cholewiński, Jerzy; Leońska-Duniec, Agata; Zarębska, Aleksandra; Żmijewski, Piotr

doi:10.2478/bjmg-2014-0022

Cited by 26 publications

(13 citation statements)

References 24 publications

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“…Subsequent investigators conducted similar case-control genetic association studies in an Asian or Caucasian population, but studies did not yield consistent results. In their studies, Ficek et al (2014) andO'Connell et al (2015) basically concluded similar results to Posthumus et al, that the AA genotype of rs970547 was associated with increased risk of ACLR in female, but not male participants or the whole population, and it was worth noting that the main subjects of these studies were Caucasians. For the remaining studies, the conclusions were contradictory to the above studies.…”

Section: Discussionsupporting

confidence: 64%

“…Prior to combining data from each individual study, we applied a "model-free approach" to estimate the genetic effect of rs970547 on risk of ACLR. Seven studies (Posthumus et al, 2010;Ficek et al, 2014;O'Connell et al, 2015;John et al, 2016b;Kang et al, 2019;Sivertsen et al, 2019;Zhao et al, 2020) including eight independent cohorts provided detailed genotype counts in both the ACLR group and the control group, and therefore OR1, OR2, and OR3 were calculated to capture the magnitude of genetic was marginally significant. Based on the relationships between these three pairwise comparisons, rs970547 was not significantly associated with risk of ACLR.…”

Section: Meta-analysis Resultsmentioning

confidence: 99%

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COL12A1 rs970547 Polymorphism Does Not Alter Susceptibility to Anterior Cruciate Ligament Rupture: A Meta-Analysis

Wang

Zhao

et al. 2021

Front. Genet.

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Objective: Currently available evidence regarding the association between collagen type XII α1 (COL12A1) polymorphism and risk of anterior cruciate ligament rupture (ACLR) remains elusive. The aim of our present study was to assess the association between COL12A1 rs970547 polymorphism and ACLR risk.Methods: Five online databases, namely, PubMed, EMBASE, ISI Web of Science, CENTRAL, and CNKI, were searched from their inception data up to December 2020 to identify relative observational studies. The methodological quality of each individual study was evaluated using the Newcastle-Ottawa Scale (NOS). The “model-free approach” was employed to estimate the magnitude of effect of COL12A1 rs970547 polymorphism on ACLR, and the association was expressed using odds ratio (OR) and its associated 95% confidence interval (95% CI). Subgroup analysis was performed by ethnicity and sex of included subjects.Results: Eight studies involving 1,477 subjects with ACLR and 100,439 healthy controls were finally included in our study. The methodological quality of included studies was deemed moderate to high based on NOS scores. The “model-free” approach suggested no genotype differences between ACLR and healthy control for the rs970547 polymorphism, but we still used the allele model to present the combined data. Under the random-effect model, there was no significant difference in the frequency of effecting allele between ACLR and control (OR: 0.91, 95% CI 0.77, 1.08; p = 0.28). Stratified analysis by sex and ethnicity also showed no difference in allele frequency.Conclusion: The findings of this current meta-analysis suggested that rs970547 was not associated with ACLR risk in male, female, and the overall population among Asians or Caucasians.

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Section: Discussionsupporting

confidence: 64%

Section: Meta-analysis Resultsmentioning

confidence: 99%

COL12A1 rs970547 Polymorphism Does Not Alter Susceptibility to Anterior Cruciate Ligament Rupture: A Meta-Analysis

Wang

Zhao

et al. 2021

Front. Genet.

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“…Ficek et al [39] 91 Polish male football players with surgically diagnosed primary ACL ruptures who qualified for ligament reconstruction; 143 male football players of a similar age without any self-reported history of ligament or tendon injury…”

Section: Col1a1mentioning

confidence: 99%

“…The studies presented in Table 4 imply that COL1A1, COL12A1, and COL5A1 G-T haplotypes are associated with reduced ACL injury risk [37][38][39][40]. This suggests that harbouring this haplotype might provide a protective effect against injuries among professional football players.…”

Section: Anterior Cruciate Ligament Injuriesmentioning

confidence: 99%

Genetic influence on football performance - a systematic review

Sarmento¹,

Marques²,

Field³

et al. 2020

Hum Mov.

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Purpose. To systematically review and organise the available literature devoted to the topic of genetics and performance in football. Methods. A systematic search was conducted in accordance with the PRISMA guidelines in Web of Science, SPORTDiscus, and PubMed for original research published before October 2019. The following keywords were entered: 'Soccer' OR 'Football' AND 'Genetic' OR 'Epigenic' OR 'Powergene' OR 'Genomic' OR 'Genotype' OR 'Polymorphism' OR 'Genetic marker'. Articles were screened by using pre-defined selection criteria, and methodological quality was assessed independently by 2 authors. Results. The electronic searches yielded 872 articles, and after the screening process, a total of 38 studies met the eligibility criteria and were subsequently included for review. Conclusions. The reviewed studies identified the most frequently addressed topics in this area of research: (1) performancerelated genes; (2) injury-related genes; (3) body composition-related genes; and (4) cardiac adaptations. This area of research is still at an early stage, and there is a need for studies to develop knowledge of genetics and its link with physical, technical, and cognitive performance in football with a view to facilitating talent identification in young players.

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“…Multiple extrinsic [ 5 ] and intrinsic risk factors have been associated with anterior cruciate ligament (ACL) ruptures [ 6 ] and more recently, evidence implicating genetic susceptibility as an intrinsic risk factor has been shown [ 7 ]. Specifically, roles of the COL1A1 gene [ 8 ], COL5A1 gene [ 9 , 10 ], COL12A1 gene [ 11 , 12 ], and the chromosome 11 MMP gene cluster [ 13 ] have been suggested, to name only a few loci. Although a number of authors claim that greater core stability decreases the risk of ACLR, the search for genetic determinants of susceptibility to ACL rupture continues.…”

Section: Introductionmentioning

confidence: 99%

Are genes encoding proteoglycans really associated with the risk of anterior cruciate ligament rupture?

Willard¹,

Gronek²,

Żmijewski³

et al. 2017

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Proteoglycans are considered integral structural components of tendon and ligament and have been implicated in the resistance of compressive forces, collagen fibrillogenesis, matrix remodelling and cell signalling. Several sequence variants within genes encoding proteoglycans were recently implicated in modulating anterior cruciate ligament ruptures (ACLR). This study aimed to test the previously implicated variants in proteoglycan and vascular epithelial growth factor encoding genes with risk of ACLR in a population from Poland. A case control genetic association study was conducted using DNA samples from 143 healthy participants without a history of ACL injuries (99 male and 44 females) (CON group) and 229 surgically diagnosed ACLR participants (158 males and 71 females). All samples were genotyped for the ACAN: rs1516797, BGN: rs1042103, rs1126499, DCN: rs516115 and VEGFA: rs699947 variants. Main findings included the (i) ACAN rs1516797 G/T genotype which was underrepresented in the CON group (CON: 36%, n=52, ACLR: 49%, n=112, p=0.017, OR=1.68, 95% CI 1.09 to 2.57) when all participants were investigated and (ii) the BGN rs1042103 A allele was significantly under-represented in the male CON group compared to the male ACLR group (CON: 39%, n=78, ACLR: 49%, n=156, p=0.029, OR=1.5, 95% CI 1.05 to 2.15). Furthermore, BGN inferred haplotypes were highlighted with altered ACLR susceptibility. Although the study implicated the ACAN and BGN genes (combination of genotype, allele and haplotype) in modulating ACLR susceptibility, several differences were noted with previous published findings.

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Does the A9285g Polymorphism in Collagen Type XII α1 Gene Associate with the Risk of Anterior Cruciate Ligament Ruptures?

Cited by 26 publications

References 24 publications

COL12A1 rs970547 Polymorphism Does Not Alter Susceptibility to Anterior Cruciate Ligament Rupture: A Meta-Analysis

COL12A1 rs970547 Polymorphism Does Not Alter Susceptibility to Anterior Cruciate Ligament Rupture: A Meta-Analysis

Genetic influence on football performance - a systematic review

Are genes encoding proteoglycans really associated with the risk of anterior cruciate ligament rupture?

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