类风湿关节炎患者TNF-α表达水平及其基因rs1800629位点多态性分析  

Expressions of TNF-α and the polymorphism of TNF-α gene rs1800629 locus in rheumatoid arthritis

作　　者：郭燕妳 刘小君 许海涛 GUO Yan-ni;LIU Xiao-jun;XU Hai-tao(Clinical Laboratory,Shenzhen Hospital(Guangming),University of Chinese Academy of Sciences,Shenzhen,Guangdong,518106,China)

机构地区：[1]中国科学院大学深圳医院(光明)检验科,广东518106

出　　处：《中国骨与关节杂志》2020年第7期522-526,共5页Chinese Journal of Bone and Joint

基　　金：深圳市宝安区科技局立项项目(2019JD221)。

摘　　要：目的了解类风湿关节炎(rheumatoid arthritis,RA)患者血清中肿瘤坏死因子-α(tumor necrosis factor-α,TNF-α)水平表达情况,并分析其基因rs1800629位点单核苷酸多态性与RA患者遗传的易感性。方法收集2017年6月至2019年7月来医院就诊并确诊为RA患者152例为RA组,选择同期健康人群107例为对照组,采用酶联免疫吸附法(enzyme-linked immuno sorbent assay,ELISA)检测血清中TNF-α水平,同时采用聚合酶链反应-限制性片段长度多态性法(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)检测TNF-α基因rs1800629位点多态性,并对检测结果进行统计分析。结果 RA患者血清中TNF-α水平为(39.16±11.05) pg/ml,明显高于健康对照组的(18.72±5.94) pg/ml,差异有统计学意义(t=3.9524,P<0.05);RA患者血清中TNF-α基因rs1800629位点的GG基因型和G等位基因检出率分别为71.72%和81.91%,明显高于健康对照组的24.30%和33.18%,差异有统计学意义(χ2=3.9547~5.0521,P<0.05);携带GG基因型RA患者血清中TNF-α水平为(48.19±15.03) pg/ml,明显高于GA和AA基因型的(34.25±9.85) pg/ml和(26.57±7.02) pg/ml,差异有统计学意义(t=2.8472~3.5165,P<0.05)。结论 RA患者血清中TNF-α水平明显升高,TNF-α基因rs1800629位点GG基因型和G等位基因检出率明显高于健康对照组,且携带GG基因型的RA患者血清中TNF-α水平明显高于其它基因型,可能是本区RA发病的危险遗传基因之一。Objective To investigate the serum levels of tumor necrosis factor-alpha (tnf-alpha) in rheumatoid arthritis (RA),and analyze the single nucleotide polymorphism at rs1800629 and the genetic susceptibility of RA.Methods All patients (June 2017 to July 2019) were divided into 2 groups:RA group (n=152,RA patients);control group (n=107,healthy people).Enzyme-linked immunosorbent (ELISA) was used to detect levels of TNF-α in the serum.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to observe the polymorphism of TNF-α gene rs1800629 locus.All testing results were analyzed.Results The TNF-α serum level of the RA group (39.16±11.05) pg / ml was significantly higher than that of the control group (18.72±5.94) pg / ml (t=3.9524,P < 0.05).The detection rates of GG genotype and G allele of rs1800629 of TNF-α gene in the serum of RA group (1.72%,81.91%,respectively) were significantly higher than that of the control group(24.30%,33.18%,respectively) (χ~2=3.9547-5.0521,P < 0.05).The level of TNF-α in the serum of patients with GG genotype RA (48.19±15.03) pg / ml was significantly higher than that of the GA and AA genotypes [(34.25±9.85) pg / ml,(26.57±7.02) pg / ml,respectively] (t=2.8472-3.5165,P < 0.05).Conclusions The level of TNF-α in the serum increases significantly in RA patients.The detection rates of GG genotype and G allele at rs1800629 of TNF-α gene are significantly higher than that of the control group,and the level of TNF-α in the serum of RA patients with GG genotype is significantly higher than that of other genotypes.Therefore,GG genotype may be one of the risk genes for RA in this region.

关 键 词：关节炎 类风湿 肿瘤坏死因子类 基因 多态性 单核苷酸 

分 类 号：R684.3[医药卫生—骨科学]