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Clinical significance of Matrilin-3 gene polymorphism in Egyptian patients with primary knee osteoarthritis.

ABSTRACT: OBJECTIVE:Osteoarthritis (OA) is a multifactorial, degenerative, and inflammatory disorder of joints causing damage of the articular cartilage, formation of osteophytes, and eburination of the subchondral bone. Matrilin-3 (MATN-3) is a non-collagenous oligomeric extracellular matrix protein (ECM), which is the smallest member of the matrilin family. This study was conducted to identify the potential association and clinical significance of MATN-3 rs8176070 (SNP6) polymorphism in a series of Egyptian patients with primary knee OA. MATERIAL AND METHODS:Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to determine genotypes of MATN-3 SNP6 for 50 primary knee OA patients in addition to 50 healthy subjects of the same sex and age range. Full history was obtained from OA patients, followed by clinical examination, together with clinical assessment of the severity of knee OA using Lequesne Algofunctional Index score and radiological grading using the Kellgren-Lawrence grade scale (KL). RESULTS:With regard to genotypes of MATN-3 gene SNP6 (rs8176070), a statistically significant difference between OA patients and healthy control subjects was found for the B\b genotype and b allele (p=0.046 and 0.042 respectively), with the prevalence being higher in OA patients with a high risk to develop OA (Odds Ratio [OR]=2.250, 95% CI=1.011-5.008). Patients with the B\b genotype had worse clinical and radiological findings than those with B\B and b\b genotypes. CONCLUSION:The investigated polymorphism in the MATN-3 gene may reflect the risk and severity of knee OA in Egyptian patients, particularly with the B\b genotype.

SUBMITTER: Diab SM

PROVIDER: S-EPMC5621842 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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Clinical significance of Matrilin-3 gene polymorphism in Egyptian patients with primary knee osteoarthritis.

Diab Safia M SM Kamal Howyda M HM Mansour Amira I AI Fawzy Rasha M RM Azab Basma S BS

European journal of rheumatology 20170704 3

<h4>Objective</h4>Osteoarthritis (OA) is a multifactorial, degenerative, and inflammatory disorder of joints causing damage of the articular cartilage, formation of osteophytes, and eburination of the subchondral bone. Matrilin-3 <i>(MATN-3)</i> is a non-collagenous oligomeric extracellular matrix protein (ECM), which is the smallest member of the matrilin family. This study was conducted to identify the potential association and clinical significance of <i>MATN-3</i> rs8176070 (SNP6) polymorphi ...[more]

PMID: 28983412

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Project description:Arthrofibrosis is characterized by excessive extracellular matrix (ECM) deposition that results in restricted joint motion after total knee arthroplasty (TKA). Current surgical and pharmacologic treatment options are limited. Therefore, an in vitro model for joint myofibroblastogenesis is valuable to investigate the arthrofibrotic process and identify diagnostic biomarkers and treatment options. In this study, we obtained intraoperative posterior capsule (PC), quadriceps tendon (QT), and suprapatellar pouch (SP) tissue from knees of four patients undergoing primary TKA for osteoarthritis and characterized primary outgrowth cells from these tissues in the absence and presence of transforming growth factor beta 1 (TGFβ1), a pro-myofibroblastic cytokine. Light microscopy of knee outgrowth cells revealed spindle-shaped cells while immunofluorescence (IF) established staining for the fibroblast-specific antigen TE-7 and Vimentin, which are characteristics of fibroblasts. These fibroblasts differentiate readily into myofibroblasts as highlighted by enhanced alpha smooth muscle actin (ACTA2) mRNA and protein expression and increased collagen mRNA (i.e., collagen type 1 (COL1A1) and collagen type 3 (COL3A1)) expression and collagenous matrix deposition in the presence of TGFβ1. Of note, these studies also revealed that knee-derived fibroblasts are more sensitive to TGFβ1-mediated myofibroblastogenesis than adipose-derived mesenchymal stem cells. Importantly, while outgrowth fibroblasts isolated from four patients and three anatomical regions exhibit similar gene expression profiles, these knee fibroblasts form a unique gene expression cluster within the fibroblast niche as revealed by RNA-sequencing analysis. In conclusion, our study provides a fibroblast/myofibroblast model of outgrowth knee cells derived from patients undergoing primary TKA that can be employed to assess myofibroblast-related processes and test novel pharmacological strategies in vitro for arthrofibrosis.

Dataset Information

Clinical significance of Matrilin-3 gene polymorphism in Egyptian patients with primary knee osteoarthritis.

Publications

Clinical significance of Matrilin-3 gene polymorphism in Egyptian patients with primary knee osteoarthritis.

Similar Datasets

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