Genetic Variants and Anterior Cruciate Ligament Rupture: A Systematic Review

Kaynak, Mustafa Sinan; Nijman, Frank; Meurs, Joyce B. J. van; Reijman, Max; Meuffels, Duncan E.

doi:10.1007/s40279-017-0678-2

Cited by 48 publications

(73 citation statements)

References 65 publications

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“…Polymorphisms in FBN2, VEGFA, KDR, COL1A1, DCN, ACN (also known as ACIN1), BGN, LUM and COL5A1 (many of which encode ECM proteins and growth factors) and interactions between COL5A1 and COL12A1 gene variants 94 are linked to human ACL rupture [95][96][97][98][99] . Genetic associations with human ACL rupture found a COL1A1 SNP that was replicated in several studies 98,[100][101][102][103][104] .…”

Section: Knee Cruciate Ligament Rupturementioning

confidence: 76%

Spontaneous dog osteoarthritis — a One Medicine vision

et al. 2019

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| Osteoarthritis (OA) is a global disease that, despite extensive research, has limited treatment options. Pet dogs share both an environment and lifestyle attributes with their owners, and a growing awareness is developing in the public and among researchers that One Medicine, the mutual co-study of animals and humans, could be beneficial for both humans and dogs. To that end, this Review highlights research opportunities afforded by studying dogs with spontaneous OA , with a view to sharing this active area of veterinary research with new audiences. Similarities and differences between dog and human OA are examined, and the proposition is made that suitably aligned studies of spontaneous OA in dogs and humans, in particular hip and knee OA , could highlight new avenues of discovery. Developing cross-species collaborations will provide a wealth of research material and knowledge that is relevant to human OA and that cannot currently be obtained from rodent models or experimentally induced dog models of OA. Ultimately , this Review aims to raise awareness of spontaneous dog OA and to stimulate discussion regarding its exploration under the One Medicine initiative to improve the health and well-being of both species.

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Section: Knee Cruciate Ligament Rupturementioning

confidence: 76%

Spontaneous dog osteoarthritis — a One Medicine vision

et al. 2019

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“…This fluorescence makes it possible to discriminate between the three types of populations we have discussed previously (Figure 2) [5]. Recent studies have shown the importance of the individual genetic component, considered as an IF, in the non-contact injuries produced in the soft tissues [6][7][8][9]. All these studies indicate that there is a strong (more than 50%) genetic influence on the nature if injuries occurring.…”

Section: Genetic Variation and Detection Methodsmentioning

confidence: 85%

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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“…Over the last decade, 33 different single nucleotide polymorphisms (SNPs) of various genes have been investigated for association with ACL tear 5-7. COL1A1 rs1800012 polymorphism was the first specific gene polymorphism to be positively associated with ACL tear 3,4 . It is also the most extensively investigated SNP in the literature with various research teams having investigated the association between COL1A1 SNPs and ACL tear in different Caucasian population subsets with mixed results [5][6][7][8] . However, till date, there is no data from the Asian continent on the association of COL1A1 SNPs and ACL tear 7 .…”

Section: Introductionmentioning

confidence: 99%

Are COL1A1 gene polymorphisms associated with anterior cruciate ligament tear in the Indian population? Results of a preliminary case-control study

Prabhakar

John

Dhillon

et al. 2019

Muscle Ligaments and Tendons J

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Introduction: Despite the identification of various intrinsic and extrinsic risk factors associated with ACL tear, the exact etiopathogenesis of ACL tear is still incompletely understood. The evidence for association of COL1A1 gene polymorphisms with ACL tear has been somewhat conflicting. Objective of the study is: to determine if rs1800012 and rs1107946 polymorphisms of COL1A1 gene are associated with ACL tear in an Indian population study group. Methods: Fifty clinically, radiologically and surgically-proven ACL deficient patients and 52 healthy controls were included in the study. After isolation of DNA from peripheral blood monocytes, real time PCR was carried out to genotype COL1A1 rs1800012 and rs1107946 polymorphisms. Results: Both the groups were matched for age and sex. Hardy Weinberg equilibrium was maintained for both genotypes. There was no signifi-cant difference in the genotype or allele distribution between the case and control groups for both rs1800012 (p=0.516) and rs1107946 polymorphisms (p=0.971 for GT and p=0.823 for TT) in this preliminary study. Conclusion: The rs1800012 polymorphism of COL1A1 gene remains the first and most extensively tested gene polymorphism for its association with ACL tear. Under-representation of the TT genotype has been observed in Swedish and South African Caucasian populations with ACL tear. This has not been noted in the Polish Caucasian population and in our study. More studies with larger study samples from different ethnic populations are needed before COL1A1 gene polymorphism screening tests are incorporated into ACL tear prevention programs. Level of evidence: III b (case-control study).KEY WORDS: anterior cruciate ligament (ACL), COL1A1 gene, single nucleotide polymorphism, genotype frequency, allele frequency.

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Genetic Variants and Anterior Cruciate Ligament Rupture: A Systematic Review

Cited by 48 publications

References 65 publications

Spontaneous dog osteoarthritis — a One Medicine vision

Spontaneous dog osteoarthritis — a One Medicine vision

Influence of Genetics on Sports Injuries

Are COL1A1 gene polymorphisms associated with anterior cruciate ligament tear in the Indian population? Results of a preliminary case-control study

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