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Are MMP3, MMP8 and TIMP2 gene variants associated with anterior cruciate ligament rupture susceptibility?
- Source :
- Journal of Science and Medicine in Sport. 22:753-757
- Publication Year :
- 2019
- Publisher :
- Elsevier BV, 2019.
-
Abstract
- Objectives Anterior cruciate ligament rupture (ACLR) is a common and severe knee injury which typically occurs as a result of sports participation, primarily via a non-contact mechanism. A number of extrinsic and intrinsic risk factors, including genetics, have been identified thus far. Matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteases (TIMPs) play a crucial role in extracellular matrix remodeling of ligaments and therefore the genes encoding MMPs and TIMPs are plausible candidates for investigation with ACL rupture risk. Design A case-control genetic association study was conducted on 229 (158 male) individuals with surgically diagnosed primary ACLR, ruptured through non-contact mechanisms and 192 (107 male) apparently healthy participants (CON) without any history of ACLR. All participants were physically active, unrelated, self-reported Caucasians. Methods All participants were genotyped for four single nucleotide polymorphisms (SNP): MMP3 (rs591058C/T, rs679620 G/A), MMP8 (rs11225395C/T), and TIMP2 (rs4789932 G/A) using standard PCR assays. Gene-gene interactions were inferred. Single-locus association analysis was conducted using the Chi-square test. SNP-SNP interaction effects were analysed using multifactor dimensionality reduction (MDR) method. Results Genotype frequencies did not significantly differ between cases and controls, however, the MMP3 rs679620 G and rs591058C alleles were significantly overrepresented in cases compared to controls (p = 0.021, OR = 1.38, 95% CI: 1.05–1.81). Conclusions These results support the hypothesis that genetic variation within MMP3 contributes to inter-individual susceptibility to non-contact ACLR. However, these results need to be explored further in larger, independent sample sets.
- Subjects :
- Adult
Male
Oncology
medicine.medical_specialty
Genotype
Anterior cruciate ligament
Physical Therapy, Sports Therapy and Rehabilitation
Single-nucleotide polymorphism
MMP8
Polymorphism, Single Nucleotide
03 medical and health sciences
0302 clinical medicine
Internal medicine
Humans
Medicine
SNP
Genetic Predisposition to Disease
Orthopedics and Sports Medicine
030212 general & internal medicine
Allele
Genetic Association Studies
Genetic association
Rupture
Tissue Inhibitor of Metalloproteinase-2
Multifactor dimensionality reduction
business.industry
Anterior Cruciate Ligament Injuries
030229 sport sciences
Genotype frequency
Matrix Metalloproteinase 8
medicine.anatomical_structure
Case-Control Studies
Athletic Injuries
Female
Matrix Metalloproteinase 3
business
Subjects
Details
- ISSN :
- 14402440
- Volume :
- 22
- Database :
- OpenAIRE
- Journal :
- Journal of Science and Medicine in Sport
- Accession number :
- edsair.doi.dedup.....f73edb8a724a12b3ada3ef11c735212a