Abstract

Osteoarthritis is a degenerative joint disorder resulting in destruction of articular cartilage, osteophyte formation, and subchondral bone sclerosis. In recent years, numerous genetic factors have been identified and implicated in osteoarthritis. The aim of the current study was to examine the influence of methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation and angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) variations on the risk of osteoarthritis.Genomic DNA is obtained from 421 persons (221 patients with osteoarthritis and 200 healthy controls).ACEgene I/D polymorphism genotypes were determined using polymerase chain reaction using I and D allele-specific primers. TheMTHFRC677T mutation was analyzed by polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP) methods. We found significant difference between the groups with respect to bothACEandMTHFRgenotype distributions (p< 0.001,p< 0.001 respectively). Our study suggests thatACEgene DD genotype andMTHFRgene CC genotype could be used as genetic markers in osteoarthritis in Turkish study populations.

Highlights

  • Osteoarthritis is a common disease of the synovial joint characterized by articular cartilage thinning and loss, which is often accompanied by alteration in the normal function of other tissues of the joint [1]

  • The power of angiotensin converting enzyme (ACE) gene DD genotype and methylenetetrahydrofolate reductase (MTHFR) gene CC genotype comparison between patients and controls was over 90% in 95% confidence interval

  • A significant difference was found in the frequencies of ACE I/D alleles between patients and controls, with OA patients having a higher presence of D allele (0.591 vs 0.418) and lower presence of theI allele (0.409 vs 0.582). compared to controls (Table 2)

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Summary

Introduction

Osteoarthritis is a common disease of the synovial joint characterized by articular cartilage thinning and loss, which is often accompanied by alteration in the normal function of other tissues of the joint [1]. Osteoarthritis is caused by genetic and environmental factors and is considered a multifactorial disease in which age, body mass index, hormonal and local biomechanical factors together with genetic predisposition play a role [2]. Classic twin studies have shown that the influence of genetic factors is between 39% and 65% in radiographic OA of the hand and knee in women, about 60% in OA of the hip, and about 70% in OA of the spine.

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