Toll样受体信号传导通路下游分子单核苷酸多态性与类风湿关节炎易感基因的关联  

The relevance between single nucleotide polymorphism in the downstream of Toll-like receptor signal transduction pathway and rheumatoid arthritis susceptible genes

作　　者：刘曦[1] 许菁[1] 潘正论[1] 张源潮[1] 胡成栋[2] 

机构地区：[1]山东大学附属省立医院风湿免疫科,济南250021 [2]河北省邯郸市中心医院骨二科

出　　处：《中华风湿病学杂志》2013年第2期76-79,共4页Chinese Journal of Rheumatology

基　　金：基金项目：国家自然科学基金（30801025）;山东省中青年科学家科研激励基金（2006BS03018）

摘　　要：目的观察Toll样受体（TLRs）信号传导通路下游分子单核苷酸多态性与类风湿关节炎（RA）易感性的关联。方法对350例中国北方汉族人群髓样分化因子88（Myd88）的rs7744位点，肿瘤坏死因子受体相关因子（TRAF）6的rs5030445位点，白细胞介素（IL）一6R的rsll265618、rs4845626位点进行基因分型，其中RA组162例，健康对照组188名，并对2组间各位点基因型频率及等位基因频率进行r检验。结果TRAF6rs5030045、IL．6Rrsll265618等位基因频率在2组之间的差异有统计学意义坼值分别为5．716、5．700，P〈0．05），基因型频率差异均无统计学意义（P〉O．05）。Myd88rs7744、IL．6Rrs4845626基因型频率、等位基因频率在2组之间的差异均无统计学意义（P〉0．05）。结论TRAF6、IL一6R单核苷酸多态性与RA易感性相关，TRAF6rs5030045位点G等位基因可能为RA的保护性基因，IL-6Rrsll265618位点T等位基因可能为RA易感基因。Objective To study the correlation between single nucleotide polymorphism （SNP） of downstream mononucleotide in signal transduction of Toll-like receptors and predisposing genes of rheumatoid arthritis （RA）. Methods One hundred and sixty-two RA patients were selected from northern part of Han people in China, and 188 healthy subjects were enrolled as normal controls. Rs7744 of Myd88, rs5030d45 of TRAF6, rs11265618 and rs4845626 of IL-6R were analyzed. The data of genotypic frequency and allele genotypic frequency were statistical analyzed by X2 test between the two groups. Results The difference of allele frequency of TRAF6 rs5030445 between the two groups were remarkable 0（2= 5.716, P〈0.05）, and so did the IL-6R rs11265618 （X2= 5.704, P〈0.05）. But the difference of genotypic frequency was not statistic- ally significant for locus of Myd88 rs7744, TRAF6 rs5030445 and IL-6R rs11265618 （P〉0.05）. And the differenceof allele frequency and genotypic frequency between the two groups had no statistical significance in locus of Myd88 rs7744 and IL-6R rs4845626 （P 〉0.05）. Conclusion There is significant correlation between single nueleotide polymorphism and predisposing genes of RA. The G allele of TRAF6 rs5030445 gene locus is a possible predisposing gene for RA. The T allele of IL-6R rs11265618 is a possible predispo- sing gene of RA.

关 键 词：关节炎 类风湿 多态性 单核苷酸 疾病易感性 TNF受体相关因子6 受体 白细胞介素6 髓样分化因子88 

分 类 号：R593.22[医药卫生—内科学]