Abstract

Objective. Osteoarthritis (OA) is a complex arthritic condition in which the genetic factor plays a major role. One of the candidate genes of is the ADAM12 gene, but no consistency has been reached till now. This study aims to investigate the potential role of four single nucleotide polymorphisms (SNPs) of the ADAM12 gene in susceptibility to knee OA and its progression in Chinese Han population. Methods. The rs1278279, rs3740199, rs1044122, and rs1871054 polymorphisms were genotyped and compared in a population based cohort consisting of 164 OA subjects and 200 age- and gender-matched controls. Results. The SNP rs1871054 was found with increased risk of OA susceptibility in comparing the genotype frequencies between the case and control groups no matter for which model of comparison (allele level, dominant model, recessive model, and extreme genotype model). Additionally, the SNP rs1871054 was found associated with increased OA severity according to the K/L grade. Conclusion. In summary, we have identified that the rs1871054 variant within the ADAM12 gene is a risk factor for increased osteoarthritis susceptibility and severity.

Highlights

  • Osteoarthritis (OA) is a complex arthritic condition, evolving over decades and leading to the loss of joint function

  • The single nucleotide polymorphism (SNP) rs1871054 in ADAM12 gene was recognized as a risk predictor in multiplicative knee OA model [12]

  • The inability to replicate the association between the ADAM12 SNPs and OA susceptibility limits the application in clinical use and the research of the molecular mechanism

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Summary

Introduction

Osteoarthritis (OA) is a complex arthritic condition, evolving over decades and leading to the loss of joint function. The main recommendations for OA management concentrate on the control of symptoms, that is, pain and function [2,3,4,5,6]. This goal is supposed to be achieved mostly by the use of acetaminophen or nonsteroidal antiinflammatory drugs (NSAIDs). Contradictory data exist recognizing the SNPs in ADAM12 with no relationship with OA susceptibility [8, 13]. The inability to replicate the association between the ADAM12 SNPs and OA susceptibility limits the application in clinical use and the research of the molecular mechanism.

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