TLR5rs5744168基因多态性与抗中性粒细胞胞浆抗体相关性小血管炎的相关性  

Relationship between polymorphism site rs5744168 of TLR5 and AAV

作　　者：何林檩 薛超[1] 廖蕴华[1] 韦素珍[1] 龚爱媚 赖彦妃 

机构地区：[1]广西医科大学第一附属医院肾内科,南宁市530021

出　　处：《实用医学杂志》2016年第17期2821-2825,共5页The Journal of Practical Medicine

基　　金：国家自然科学基金资助项目(编号:81360117);广西青年科学基金资助项目(编号:桂科青0728060);广西医疗卫生重点科研课题(编号:2010008);广西壮族自治区卫生厅自筹经费科研课题(编号:Z2007088)

摘　　要：目的:探讨基因TLR5 R392X(C>T)(rs5744168)多态性与抗中性粒细胞胞浆抗体相关性小血管炎(ANCA相关性小血管炎,AAV)的相关性。方法:利用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)来鉴定120例AAV患者和212例正常人的TLR5 R392X基因型,并收集资料进行分析。结果 :(1)两组TT型均缺失,AAV组CC、CT型频率分别为82.50%、17.70%,对照组分别为88.68%、11.32%,C和T等位基因分布频率AAV组为91.25%、8.75%,对照组为94.34%、5.66%,两组基因型及等位基因分布频率比较差异无统计学意义(P<0.05)。(2)AAV组中两种基因型血沉、尿蛋白定量等水平比较差异有统计学意义(P<0.05),CC型较高。(3)将单因素进行二元Logistic回归分析,发现TLR5 R392X基因多态性对AAV患病风险无关联,总胆固醇与AAV发病有关联。结论:TLR5 R392X基因可能与广西AAV患者的遗传易感性不相关,可能与其血沉、尿蛋白定量等水平存在关联。Objective To investigate the relationship between putative rs5744168 of Toll-like receptors 5 （TLR5）and ANCA associated small vasculitis （AAV） in Guangxi Han nationality. Methods Polymorphism was analyzed by polymerase chain restricted fragments length polymorphism in 120 cases with AAV and 212 controls. Results （ 1 ）There were two genotypes of CC and CT in AAV group and control group. The frequencies distribution of CC and CT in 120 AAV patients were 82.50% and 17.50% respectively and the frequencies of allele C and T 91.25% and 8.75%,respectively. In controls,the genotypefrequencies of CC and CT were 88.68% and 11.3%, and frequencies of allele C and T 94.34% and 5.66%, respectively. No significant difference was found in either genotype distribution or allele frequencies between the patients and the controls （P 〉 0.05）. （2）Significant reductions in the incidence of BUN, uric acid, quantitative test of 24 h urinary protein and erythrocyte sedimentation rate（ESR） were found in CC genotype （P 〈 0.05）. （3） Binary regression model with a logit link function found total cholesterol was related with AAV. Conclusion The susceptibility of AAV in Guangxi Han population has nothing to do with the polymorphism of rs5744168.In AAV patients, polymorphism of rs5744168 may be associated with ESR, BUN, uric acid and quantitative test of 24 h urinary protein levels.

关 键 词：抗中性粒细胞胞浆抗体相关性小血管炎 TLR5 单核苷酸多肽性 基因 

分 类 号：R593.2[医药卫生—内科学]