Genetic risk factors for anterior cruciate ligament ruptures:<i>COL1A1</i>gene variant

Posthumus, Michael; September, Alison V.; Keegan, Mark; O'Cuinneagain, D; Merwe, Willem van der; Schwellnus, Martin; Collins, Malcolm

doi:10.1136/bjsm.2008.056150

Cited by 165 publications

(197 citation statements)

References 24 publications

(43 reference statements)

Supporting

Mentioning

173

Contrasting

Unclassified

Order By: Relevance

“…The frequency of the 5A allele was 0.11 in the control group and 0.14 in the ACL group. This is similar to that in a population in Asia reported by Takahashi et al (2001) and Liu et al (2010), although different from those in South Africa reported by Posthumus et al (2009).…”

Section: Patient Characteristicssupporting

confidence: 77%

Association between matrix metalloproteinase-3 polymorphism and anterior cruciate ligament ruptures

Malila¹,

Yuktanandana²,

Saowaprut³

et al. 2011

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Anterior cruciate ligament (ACL) ruptures are considered to be the most severe joint injury in sports. However, the precise etiologies of ACL injuries are not fully understood. Recently, the gene encoding the matrix metalloproteinase-3 (MMP-3, stromelysin-1) was shown to be associated with anterior cruciate ligament ruptures. The 5A/6A polymorphism in the promoter of the MMP-3 gene affects the regulation of MMP-3 gene expression. We examined the association between polymorphism within -1612 of the MMP-3 gene and ACL rupture in an independent population. Eighty-six participants between 20 and 40 years of age with surgically diagnosed ACL ruptures and 100 healthy controls between 18 and 28 years of age without history of ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 10 (4): 4158-4165 (2011) MMP-3 SNP in ACL ruptures 4159 ligament or tendon injuries were recruited for the study. All participants were genotyped for the MMP-3 polymorphism (-1612 5A/6A). Statistical analyses of genotype frequencies between patients and healthy controls were performed by the chi-square test. A significant difference was found between ACL rupture subgroups in terms of genotype association (5A+ (5A/5A, 5A/6A): 37.5% in contact sports vs 20% in non-contact sports; P = 0.02). In allelic association, there were significant differences (6A: 81.2% in contact sports vs 89.1% in non-contact sports, 5A: 18.8% in contact sports vs 10.9% in non-contact sports, P = 0.01). The 5A+ genotype of MMP-3 was represented in ACL ruptures in contact sport participants. We propose that this sequence variant is a specific genetic element that should be included in a multifactorial model to understand the etiologies and risk factors for ACL rupture.

show abstract

Section: Patient Characteristicssupporting

confidence: 77%

Association between matrix metalloproteinase-3 polymorphism and anterior cruciate ligament ruptures

Malila¹,

Yuktanandana²,

Saowaprut³

et al. 2011

Genet. Mol. Res.

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

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%