Gene variants within the COL1A1 gene are associated with reduced anterior cruciate ligament injury in professional soccer players

Ficek, Krzysztof; Cięszczyk, Paweł; Kaczmarczyk, Mariusz; Maciejewska-Karłowska, Agnieszka; Sawczuk, Marek; Cholewiński, Jerzy; Leońska-Duniec, Agata; Stępień–Słodkowska, Marta; Zarębska, Aleksandra; Stepto, Nigel K.; Bishop, David; Eynon, Nir

doi:10.1016/j.jsams.2012.10.004

Cited by 78 publications

(126 citation statements)

References 29 publications

(38 reference statements)

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“…All these studies indicate that there is a strong (more than 50%) genetic influence on the nature if injuries occurring. Other studies show that the presences of these variations in DNA are related to injuries produced in the connective tissue although most of these studies have been performed in non-sports population [10][11][12][13].…”

Section: Genetic Variation and Detection Methodsmentioning

confidence: 99%

Influence of Genetics on Sports Injuries

Pruna¹,

Clos²,

Bahdur³

et al. 2017

J Nov Physiother

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SummaryThe identification of risk factors and the assessment of athlete's predisposition to suffer an injury and the way in which it will occur is hard to predict due to the multifactorial origin of the lesions. In recent years, the importance of the genetic component of each individual as a possible cause of injury predisposition is being evaluated.The objective of this work was to write a review of the genetic studies carried out to date on connective tissue injuries and propose future research lines that would allow the development of more personalized training programs and specify preventive therapies in order to reduce the injury risk.The multifactorial origin of injuries complicates the identification of risk factors (extrinsic and intrinsic factors). Together, these factors and their interaction predisposes an athlete to injuries. In recent years, the genetic component of each individual as a possible cause of injury predisposition has become of importance.The aim of this article was to propose a review of published genetic studies related to connective tissue repair or regeneration and to pave the way for future Sports Medicine Research. This information could be very useful in order to individualize the preventive strategies to avoid injuries and to optimize the therapeutic and rehabilitation process after injuries.Applied biology is already contributing new knowledge by providing new biomarkers that will give information and increase understanding regarding the susceptibility of individuals to suffer certain types of injury. Genetic analysis can offer us reliable and objective predictive parameter that combined with the current methods of analysis will help improve the performance and management of athletes.

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Section: Genetic Variation and Detection Methodsmentioning

confidence: 99%

Influence of Genetics on Sports Injuries

Pruna¹,

Clos²,

Bahdur³

et al. 2017

J Nov Physiother

View full text Add to dashboard Cite

show abstract

“…Since the previous ACL retreat, a growing number of common DNA sequence variants within genes involved in various biological processes have been associated with susceptibility to ACL rupture. These include variants within several genes that encode collagens [169][170][171][172][173][174][175] and proteoglycans 176 involved in the formation of the collagen fibril, the basic building block of ligaments. A subset of these variants has been specifically associated with ACL ruptures in females but not in males.…”

Section: Genetic Risk Factorsmentioning

confidence: 99%

ACL Research Retreat VII: An Update on Anterior Cruciate Ligament Injury Risk Factor Identification, Screening, and Prevention

Shultz

Schmitz

Benjaminse

et al. 2015

Journal of Athletic Training

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“…It was assumed that the predisposition for scars might be a polygenic trait; therefore, the haplotypes in two candidate polymorphisms would provide more information than those in any single polymorphism on the complex relationship between DNA sequence variations and traits. In fact, studies have shown that haplotype analysis is more powerful when the genotypes are in LD with the causative locus (19).…”

Section: Discussionmentioning

confidence: 99%

“…Ficek et al (19) reported that higher frequency of the GT haplotype was associated with reduced risk of ACL injury. Yazdanpanah et al (17) indicated a significantly high association of the GT haplotype with an increased risk of fragility fracture in women.…”

Section: Discussionmentioning

confidence: 99%

Genetic association of the COL1A1 gene promoter –1997 G/T (rs1107946) andSp1 +1245 G/T (rs1800012) polymorphisms and keloid scars in a Jeddah population

Linjawi¹,

Tork²,

Shabiah³

2016

Turk J Med Sci

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IntroductionKeloid scars are benign fibroproliferative cutaneous lesions resulting from the overproduction of all components of the healing process, including fibroblasts, collagen, elastin, and proteoglycans; they can occur following burn injuries, lacerations, abrasions, surgery, piercings, vaccinations, and even minor skin trauma. They are unique in humans, and especially in genetically susceptible individuals from nonwhite populations (1-3). It has been estimated that about 15%-20% of Blacks, Hispanics, and Orientals suffer from keloids and there appears to be a genetic predisposition to keloid formation (4). Keloids can develop at every age, but they have a higher incidence between 10 and 30 years (1,3). A slight female predominance is also noted, but this could be related to the higher rate of earlobe piercing in females (3,5). The incidence rates of hypertrophic scarring vary from 40% to 70% following surgery to up to 91% following burn injuries (4). The alterations responsible for keloid formation are still unknown, but it is thought that Background/aim: Scars develop at the end of the natural wound-healing process and are characterized by excessive collagen deposition, particularly types I and III collagen. This study aimed to investigate the genetic association of COL1A1 −1997 G/T (rs1107946) and COL1A1 Sp1 +1245 G/T (rs1800012) polymorphisms with the incidence of scars. Materials and methods:A case-control association study was conducted with 84 volunteers from Jeddah, Saudi Arabia (47 patients and 37 controls). The allele frequency distribution and nucleotide genotypes of −1997 G/T, +1245 G/T were ascertained by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) analysis.Results: Our results indicated that the distribution of COL1A1 (rs1107946) genotypes was significantly different between patients and controls (P = 0.00). The incidence of COL1A1 (rs1107946) genotype GG was significantly associated with a risk of scars. The distribution of the (rs1107946) genotype was drastically higher in women with scars (P= 0.00). One haplotype block in COL1A1 was documented by the pair-wise linkage disequilibrium between the single nucleotide polymorphisms (SNPs). The frequency of the GG haplotype constructed by the two SNPs was robustly high and associated with risk of scars. Conclusion:Our results strengthen the evidence for the association between polymorphisms of −1997 G/T, +1245 G/T of the COL1A1 gene in the genetic etiology of keloid scars.

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Gene variants within the COL1A1 gene are associated with reduced anterior cruciate ligament injury in professional soccer players

Cited by 78 publications

References 29 publications

Influence of Genetics on Sports Injuries

Influence of Genetics on Sports Injuries

ACL Research Retreat VII: An Update on Anterior Cruciate Ligament Injury Risk Factor Identification, Screening, and Prevention

Genetic association of the COL1A1 gene promoter –1997 G/T (rs1107946) andSp1 +1245 G/T (rs1800012) polymorphisms and keloid scars in a Jeddah population

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