Abstract

To investigate the association between single nucleotide polymorphisms (SNPs) of A disintegrin and metalloproteinase with thrombospondin motifs (ADAMTS) 14 (ADAMTS14) gene and susceptibility to knee osteoarthritis (KOA) in Chinese Han population. Using a case–control design, we enrolled 346 KOA patients and 480 healthy controls. Peripheral blood samples were extracted from each subject. Genotype was determined by sequencing PCR products. The genotype frequencies between cases and controls were compared. The genotype distribution was in accordance with Hardy–Weinberg equilibrium. The minor G allele in case group was significantly higher than in the control group (21.4 compared with 8.8%, P=0.000, odds ratio (OR) = 1.71 (95% confidence interval (CI): 1.39–2.11). The GG genotype and the GG/AG combination were more common in the osteoarthritis (OA) group than in the control group. Compared with AA genotype, the GG (OR = 3.09, 95%CI: 2.01–4.75), AG (OR = 2.55, 95%CI: 1.64–3.96), and GG/AG (OR = 1.57, 95%CI: 1.19–2.07) increased the risk of OA. Multiple logistic confirmed the findings by adjusting some potential factors. Subgroup analysis indicated that the ras4747096 was still significantly associated with KOA. There were no significant differences in allele frequency or genotypes frequency for erythrocyte sedimentation rate and C-reaction protein in OA patients (P>0.05). ADAMTS14 gene polymorphism was associated with KOA, and the GG genotype increased the risk of KOA in Chinese Han population. The ADAMTS14 may be a diagnostic marker and therapeutic target for KOA treatment. The future study should explore the specific molecular mechanism.

Highlights

  • Knee osteoarthritis (KOA) is a serious rheumatic disease characterized by articular cartilage damage and joint space narrowing

  • The present study investigates the association between single nucleotide polymorphism (SNP) of ADAMTS14 gene rs4747096 and KOA in Chinese Han population

  • A lot of studies had explored the associations between KOA and different candidate genes in different ethnic backgrounds [18,19]

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Summary

Introduction

Knee osteoarthritis (KOA) is a serious rheumatic disease characterized by articular cartilage damage and joint space narrowing. In the United States, symptomatic KOA occurs in approximately 10% of adults aged 60 or above. There are 9.3 million adults who are suffering from osteoarthritis (OA) of the knee in the United States. With the development in ageing, KOA patients has increased every year, and estimated at approximately 200 million. As a result of the ageing process, the number of people with OA of the knee is expected to increase in the coming decades [5]. It was suggested that the gene accounted for more than 60% of diseases [7]. The human leukocyte antigen class II was the best-known gene in OA, accounting for approximately one-third of OA susceptibility [8].

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