TNF-β基因多态性与类风湿性关节炎相关性分析

Research in Association of Gene Polymorphism of Tumor Necrosis Factor β with Rheumatoid Arthritis

目的研究广州地区汉族类风湿性关节炎患者TNF-β基因第一内含子＋252等位基因的单核苷酸替代（G→A）产生的基因多态性，是否与类风湿性关节炎发病的易感性相关。方法用限制性片段长度多态性-聚合酶链反应（polymerase chain reaction with restriction fragment length polymorphism,PCR-RFLP）技术鉴定120例类风湿性关节炎患者和120例健康对照的基因及基因型，计算其频率，用卡方检验统计显著性。结果TNF-β^＋252A等位基因在RA患者组出现的频率明显高于对照组（x^2=57．7，P〈0．01，OR=4．476，95％CI：3．009～6．658）；RA患者组的TNF—β^＋252G／TNF—β^＋252A基因型和TNF—β^＋252A／TNF—β^＋252A基因型的频率比对照组显著增高（x^2=52．97，P〈0．01）。结论TNF—β^＋252A等位基因与广东地区汉族人群RA发病强相关，可能是RA的易感基因。具有TNF-β^＋252G等位基因人群的RA发病率低，该基因可能与RA的耐受性有关。

Objective To explore that if the first intron of tumor necrosis factor β^＋252 lous single nucleotide polymorphism （G→A） has any association to the susceptibility of rheumatoid arthritis . Method PCR-RELP is used to identify the gene and genetype of 120 rheumatoid arthritis patients and 120 normal controls and calculate the frequencies. Chi-squared test is used to identified the significance. Results The frequency of TNF- β^＋252A is higher in the patients than in nomal controls. （x^2= 57.7, P〈 0.01, OR = 4.476, 95% CI： 3.009～6.658）. The frequencies of genetype TNF-β^＋252G / TNF-β^＋252A and genetype TNF- β^＋252A / TNF- β^＋252A are higher in RA patients than in nomal controls. （ x^2=52.97, P〈0.01） Conclusions TNF-β^＋252A is closely relate to the morbidity of RA, maybe the predisposing gene of RA;While the TNF- β^＋252G has lowerer morbidity, maybe relate to toleration of RA.