The IL-6 rs12700386 polymorphism is associated with an increased risk of developing osteoarthritis in the knee in the Chinese Han population: a case-control study

Hui Yang,Gang Chen,Xindie Zhou,Dongmei Xu

doi:10.1186/s12881-020-01139-2

Hui Yang, Gang Chen + Show 2 more

Open Access

https://doi.org/10.1186/s12881-020-01139-2

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Abstract

BackgroundThis case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population.MethodsWe extracted DNA from 763 subjects (352 OA patients and 411 healthy controls). The relative expression levels of IL-6 in blood samples of patients with knee OA was determined by quantitative reverse transcription PCR (qRT-PCR) and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) was used for genotyping the IL-6 gene polymorphism.ResultsWe found that the IL-6 polymorphism rs12700386 enhanced patient susceptibility to developing knee OA. Based on a subgroup analysis, the risk of developing knee OA was elevated in smokers, drinkers, and subjects ≥55 years old or with BMI ≥ 25 kg/m2. The combination of smoking, drinking, and having the rs12700386 genotype led to an increase in the risk of developing knee OA, indicating that an underlying interaction between gene and environment exists. The rs12700386 genotype was found to be correlated with an increase in IL-6 expression. We also found that IL-6 levels were significantly higher in the CC genotype compared to the GG genotype carriers in OA patients.ConclusionThese data suggest that the rs12700386 polymorphism in the IL-6 gene leads to an increase in the risk of knee OA in Chinese Han individuals.

Highlights

This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population
This paper presents a case-control study of 352 OA patients and 411 healthy controls, which aimed to investigate whether the rs12700386 polymorphism is related to knee OA risk and IL-6 gene levels in the Chinese Han population
The IL-6 rs12700386 polymorphism led to an obvious increase in the risk of OA risk in dominant, homozygous, and allelic models

Summary

Introduction

This case-control study aims to examine the association between the Interleukin-6 (IL-6) rs12700386 polymorphism and the increased risk of developing osteoarthritis (OA) in the knee in the Chinese Han population. Osteoarthritis (OA) is representative joint disease associated with damage to the synovial joint structure and function [1] and worldwide is estimated to affect 10% of men and 18% of women who are 60 years and older [2]. IL-6 is a four-helix cytokine containing 184 amino acids, secreted by many cell types in response to infection, cancer, and inflammation [6]. It can effectively regulate B and T cell responses and coordinate activities of both the innate and adaptive immune systems [7]. We propose that IL-6 is a pivotal candidate gene for OA susceptibility

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