Gene Expression Differences Between Ruptured Anterior Cruciate Ligaments in Young Male and Female Subjects

Johnson, Jeffrey S.; Morscher, Melanie A.; Jones, Kerwyn C.; Moen, Susan M.; Klonk, Christopher J.; Jacquet, Robin; Landis, William J.

doi:10.2106/jbjs.n.00246

Cited by 26 publications

(26 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Moreover, recent work has linked human ACAN rs1516797 with the risk of ACL injury in both males and females [48]. A separate study revealed ACAN gene expression is up-regulated in ACL samples from female compared to male patients that have undergone ACL repair surgery, suggesting a possible etiology for the observed sex differences among patients with ACL injury [65]. The precise mechanism by which ACAN up-regulation may lead to ligament weakening is currently unclear, though a structural change appears to be the most likely etiology [63,64].…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association analysis in dogs implicates 99 loci as risk variants for anterior cruciate ligament rupture

et al. 2017

View full text Add to dashboard Cite

Anterior cruciate ligament (ACL) rupture is a common condition that can be devastating and life changing, particularly in young adults. A non-contact mechanism is typical. Second ACL ruptures through rupture of the contralateral ACL or rupture of a graft repair is also common. Risk of rupture is increased in females. ACL rupture is also common in dogs. Disease prevalence exceeds 5% in several dog breeds, ~100 fold higher than human beings. We provide insight into the genetic etiology of ACL rupture by genome-wide association study (GWAS) in a high-risk breed using 98 case and 139 control Labrador Retrievers. We identified 129 single nucleotide polymorphisms (SNPs) within 99 risk loci. Associated loci (P<5E-04) explained approximately half of phenotypic variance in the ACL rupture trait. Two of these loci were located in uncharacterized or non-coding regions of the genome. A chromosome 24 locus containing nine genes with diverse functions met genome-wide significance (P = 3.63E-0.6). GWAS pathways were enriched for c-type lectins, a gene set that includes aggrecan, a gene set encoding antimicrobial proteins, and a gene set encoding membrane transport proteins with a variety of physiological functions. Genotypic risk estimated for each dog based on the risk contributed by each GWAS locus showed clear separation of ACL rupture cases and controls. Power analysis of the GWAS data set estimated that ~172 loci explain the genetic contribution to ACL rupture in the Labrador Retriever. Heritability was estimated at 0.48. We conclude ACL rupture is a moderately heritable highly polygenic complex trait. Our results implicate c-type lectin pathways in ACL homeostasis.

show abstract

Section: Discussionmentioning

confidence: 99%

Genome-wide association analysis in dogs implicates 99 loci as risk variants for anterior cruciate ligament rupture

et al. 2017

View full text Add to dashboard Cite

show abstract

“…The genetically determined features of collagen synthesis have an effect both on the strength of protein bonds in collagen and on the diameter of fibrils [32]. Again, it was proved that genetic characteristics are inherited and more expressed in the female line [33].…”

Section: Mechanism Risk Factors and Programs For Prevention Of Antermentioning

confidence: 98%

Surgical treatment of anterior cruciate ligament injury (review)

Anastasieva¹,

Simagaev²,

Кирилова³

2020

View full text Add to dashboard Cite

The anterior cruciate ligament (ACL) is the key stabilizer of the knee joint, which prevents the anterior displacement of the tibia relative the femur and rotational instability of the knee joint. Proper understanding of its complex anatomy, function and biomechanics, mechanism and the type of ACL injury is of great importance in choosing a treatment strategy. Findings of clinical tests and imaging methods have a significant value in the diagnosis of anterior knee joint instability. Considering all the variety of currently existing techniques and implants for operative treatment of anterior knee instability, the clinical practitioner should make the right choice of a method or combination of methods for surgical ACL reconstruction in a specific patient, taking into account individual risks of gonarthrosis. The goal is to ensure knee joint stability with the least invasiveness to allow the patient to return to the preoperative level of physical activity as soon as possible.

show abstract

“…Recent studies have begun to focus on the importance of the genetic component, considered as an intrinsic factor, in the pathogenesis of non-contact musculoskeletal soft tissue injuries (NCMSTIs) [12][13][14] . All these studies show that there is a marked genetic influence in the nature of an injury 15 , higher than 50% 13,16 . The genetics characteristic of players may also provide information regarding this predisposition of MCL to tear [17][18][19] .…”

Section: Original Articlementioning

confidence: 99%

Elastin: a possible genetic biomarker for more severe ligament injuries in elite soccer. A pilot study

Artells

Pruna

Dellal

et al. 2016

MLTJ

View full text Add to dashboard Cite

SummaryBackground: The study of new genetic biomarkers in genes related to connective tissue repair and regeneration may help to identify individuals with greater predisposition to injury, who may benefit from targeted preventive measures, and those who require longer recovery time following a muscle, ligament or tendon injury. The present study investigated whether single nucleotide polymorphisms of the Elastin gene could be related to MCL injury. Methods: 60 top class football players were studied to identify single nucleotide polymorphisms for the Elastin (ELN) gene using Allelic Discrimination analysis. Each player was followed for 7 seasons, and each MCL injury was noted. Results: Ligament injury rate, severity and recovery time are related to specific genotypes observed in the elastin gene, especially the ELN-AA (16 MCL) and the ELN-AG (3 MCL). Players with the ELN-GG genotype sustained no MCL injury during the 7 seasons of the study. Conclusions: The identification of polymorphisms in the ELN gene may be used as a novel tool to better define an athlete's genotype, and help to plan training and rehabilitation programmes to prevent or minimize MCL ligament injuries, and optimize the therapeutic and rehabilitation process after soft tissue injuries, and manage the workloads during trainings and matches.

show abstract

Gene Expression Differences Between Ruptured Anterior Cruciate Ligaments in Young Male and Female Subjects

Cited by 26 publications

References 31 publications

Genome-wide association analysis in dogs implicates 99 loci as risk variants for anterior cruciate ligament rupture

Genome-wide association analysis in dogs implicates 99 loci as risk variants for anterior cruciate ligament rupture

Surgical treatment of anterior cruciate ligament injury (review)

Elastin: a possible genetic biomarker for more severe ligament injuries in elite soccer. A pilot study

Contact Info

Product

Resources

About