Is the Combination of COL1A1 Gene Polymorphisms a Marker of Injury Risk?

Stępień–Słodkowska, Marta; Ficek, Krzysztof; Ziętek, Paweł; Kaczmarczyk, Mariusz; Łubkowska, Wioletta; Szark-Eckardt, Mirosława

doi:10.1123/jsr.2015-0151

Cited by 17 publications

(27 citation statements)

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“…By the way, there is a second COL1A1 polymorphism (COL1A1 1997G/T, rs1107946) that has been studied with the incidence of ACL injuries, whereas no significant association was identified. [ 11 , 23 ]…”

Section: Discussionmentioning

confidence: 99%

Association of polymorphisms rs1800012 in COL1A1 with sports-related tendon and ligament injuries: a meta-analysis

Wang

Chen

et al. 2017

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It has been reported that the single nucleotide polymorphism (SNP) rs1800012 in COL1A1 might be associated with the susceptibility to sports-related tendon and ligament injuries such as ACL injuries, Achilles tendon injuries, shoulder dislocations and tennis elbow. But the data from different studies have been conflicting. Here we attempted to systematically summarize and clarify the association between the SNP and sports-related tendon and ligament injuries risk. Six eligible studies including 933 cases and 1,381 controls were acquired from PubMed, Web Of Science and Cochrane library databases. Significant association was identified in homozygote model (TT versus GG: OR=0.17, 95%CI 0.08-0.35, PH=0.00) and recessive model (TT versus GT/GG: OR=0.21, 95%CI 0.10-0.44, PH=0.00). Our results indicated that COL1A1 rs1800012 polymorphism may be associated with the reduced risk of sports-related tendon or ligament injuries, especially in ACL injuries, and that rare TT may played as a protective role.

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Section: Discussionmentioning

confidence: 99%

Association of polymorphisms rs1800012 in COL1A1 with sports-related tendon and ligament injuries: a meta-analysis

Wang

Chen

et al. 2017

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“…A recent study on recreational skiers who suffered ACL injury examined the association between a combination of COL1A1 gene polymorphisms and ACL lesion 17. They found that GG homozygotes were underrepresented in the ACL rupture group, suggesting an association with reduced risk of ACL injury.…”

Section: Introduction and Basic Sciencementioning

confidence: 99%

Genetic and molecular factors and anterior cruciate ligament injuries: current concepts

2017

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“…No statistically significant differences were found in the carrier of the studied genotypes or alleles for the carrier of SNV rs1107946 in the skiers and the control group. At the same time, the GG genotype was the most common, although its carrier did not differ statistically significantly in skiers with a cruciate ligament tear and without it [28].…”

Section: Col1a1 Genementioning

confidence: 81%

“…There are many studies that report an association of SNV in the COL1A1 gene with a predisposition to damage to muscles, tendons, and ligaments [10,28,31,32]. SNV in the COL1A1 gene can alter its expression and affect the properties of the type I collagen protein, which can subsequently increase the risk of sports injuries.…”

Section: Col1a1 Genementioning

confidence: 99%

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Candidate genes and single-nucleotide gene variants associated with muscle and tendon injuries in cyclic sports athletes

Balberova

2021

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Sports injuries prevention is one of the key issues of the training process and reducing the risk of developing anxiety and depressive disorders in professional athletes. One of peculiarities of sports injuries is the loss of the ability to train in view of the tendon-ligamentous apparatus integrity, joints, muscles or bones violation. In cyclic sports, the most common are injuries to the ankle joint, injuries to muscles and tendons, and sprains. Injuries to ligaments and tendons are the result of multifactorial problems, including the discrepancy between training effects and the genetically determined capabilities of the athlete's body. Sports injuries consequences are determined by complex interactions between the athlete's genotype and environmental factors, in particular training influences. (1) Background: to review scientific articles on the problem of research on candidate genes and single-nucleotide variants (SNVs) of genes associated with muscle, tendon, and ligament injuries in cyclic sports athletes. (2) Methods: a search of articles for the period from 2008 to 2020 was conducted in the databases e-LIBRARY, SCOPUS, Web of Science, Google Scholar, Clinical keys, PubMed using the keywords: personalized medicine, genetics, candidate genes, single-nucleotide variant, polymorphism, muscle, tendon, injury, athlete. (3) Results: Studies have shown that muscle and tendon injuries in cyclical sports athletes are associated with SNV rs1800012, rs1107946 of the COL1A1 gene, SNV rs12722 of the COL5A1 gene, SNV rs679620 of the MMR3 gene, SNV rs2289360 of the ELN gene, SNV rs143383 of the GDF5 gene. The most studied polymorphisms are rs1800012, rs1107946 of the COL1A1 gene, rs12722 of the COL5A1 gene, and rs143383 of the GDF5 gene. The variable results of associative genetic studies and genome-wide studies are most likely due to the racial and ethnic heterogeneity of the samples and differences in the study design. (4) Conclusions: Identification of genetic markers associated with injuries and diseases of the musculoskeletal system, ligamentous apparatus, and the ability of tissue to regenerate can help sports doctors and coaches develop personalized strategies to prevent or reduce muscles, joints, and ligaments diseases in athletes. The translation of these research results into the training and treatment process is important for improving cyclic sports athletes' performance, reducing their professional mala-daptation and anxiety and depressive disorders development risk.

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Is the Combination of COL1A1 Gene Polymorphisms a Marker of Injury Risk?

Abstract: The study showed that GG homozygotes were underrepresented in the ACL-rupture group compared with the control group, which suggests an association with reduced risk of ACL injury.

Cited by 17 publications

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Association of polymorphisms rs1800012 in COL1A1 with sports-related tendon and ligament injuries: a meta-analysis

Association of polymorphisms rs1800012 in COL1A1 with sports-related tendon and ligament injuries: a meta-analysis

Genetic and molecular factors and anterior cruciate ligament injuries: current concepts

Candidate genes and single-nucleotide gene variants associated with muscle and tendon injuries in cyclic sports athletes

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