Identifying the role of ASPN and COMP genes in knee osteoarthritis development

Abhishek Mishra,Priya Mishra,Rajeshwar Nath Srivastava,Sachin Awasthi,Saloni Raj

doi:10.1186/s13018-019-1391-7

Abstract

BackgroundOsteoarthritis (OA) is a common cause of musculoskeletal disability among elders and is characterized by late-onset degeneration of articular cartilage. OA affects various joints, commonly hand, knee, and hip, with clinical features that are unique to each joint. This study was initiated to identify and evaluate the role of the ASPN and COMP genes in the development of knee OA.MethodsA case–control study was carried out involving 500 cases with knee OA (diagnosed by the American College of Rheumatology) and an equal number of healthy controls. Blood was drawn for genomic DNA isolation. PCR-RFLP and TaqMan assay methods were used to identify the SNPs. mRNA and protein expression of genes were carried out in peripheral blood lymphocytes (PBLs) by RT-PCR and Western immunoblotting. The data obtained were analyzed for the statistical significance between control and case groups.ResultsThe variant genotype of ASPN and COMP genes was found to be present at a relatively higher frequency in cases than controls. RT-PCR and immunochemical studies revealed increased mRNA and protein expression of such gene in PBLs isolated from cases of knee OA as compared to healthy control.ConclusionThe allelic alteration in ASPN and COMP genes in knee OA cases points to the role of these genes in the development of knee OA. Further, increased mRNA and protein expression of ASPN and COMP in peripheral blood samples of patients with the disease suggest that expression profile of candidate gene could be used as a biomarker for predicting the development and progression of knee OA.

Highlights

Osteoarthritis (OA) is a common cause of musculoskeletal disability among elders and is characterized by late-onset degeneration of articular cartilage
One SNP as c279C/A was not found in the study population while this SNP was identified in the Japanese population [8]. This is in accordance with the literature, where it is reported that the frequency of variant allele A of the c279C/A, cartilage-oligomeric matrix protein (COMP) polymorphism is very rare [8]
Our study was focused on the functional role of genes in the pathogenesis of knee OA

Summary

Introduction

Osteoarthritis (OA) is a common cause of musculoskeletal disability among elders and is characterized by late-onset degeneration of articular cartilage. This study was initiated to identify and evaluate the role of the ASPN and COMP genes in the development of knee OA. Osteoarthritis (OA) is one of the most prevalent chronic diseases and a leading cause of disability among the elderly [1]. It is characterized by a gradual loss of articular cartilage in the joint. Epidemiological and genetic studies have demonstrated that genetics is an important factor in the development and progression of knee OA [6].

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Discussion

Conclusion