广西汉族人群Toll样受体2(597T/C)基因多态性与ANCA相关性小血管炎的关系  

The correlation between TLR2 gene-597T/C polymorphism and primary ANCA associated small vasculitis of Han population in Guangxi

作　　者：韦素珍[1] 薛超[1] 廖蕴华[1] 赖彦妃 吴春香[1] 何林檩 龚爱媚 

机构地区：[1]广西医科大学第一附属医院肾内科,530021

出　　处：《实用医学杂志》2016年第7期1092-1096,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:重2010008)

摘　　要：目的:研究TLR2(Toll-like receptor2)基因-597T/C单核苷酸多态性(SNP)与中国广西汉族人群原发性抗中性粒细胞胞浆抗体(ANCA)相关性小血管炎(AAV)的关系。方法:采用病例-对照研究,筛选110例ANCA相关性小血管炎(病例组)和200例健康对照人群(对照组)作为研究对象,对其行血清相关指标的检测,并使用PCR-RFLP方法对TLR2-597T/C位点进行分析。结果:(1)110例AAV患者TLR2 597T/C存在3种基因型,TT、TC及CC 3种基因型频率分别为54.55%、40.00%、5.45%,T和C等位基因频率分别为74.55%、25.45%;200例健康人TT、TC及CC基因型频率分别为56.00%、40.50%、3.50%,T和C等位基因频率分别为76.25%、23.75%;两者基因型及等位基因频率比较差异无统计学意义(P>0.05);(2)AAV组3种基因型间蛋白尿发生率、血红蛋白水平比较差异有统计学意义(P<0.05);(3)病理资料分析显示AAV组3种基因型小血管炎活动指数及慢性指数差异无统计学意义(P>0.05)。结论:在广西汉族人群中,TLR2-597T/C多态性可能与其蛋白尿发生率、血红蛋白水平具有相关性,但可能与ANCA相关性小血管炎遗传易感性不相关。Objective To investigate the correlation between Toll-like receptor2（TLR2） gene promoter region-597 T / C polymorphism and primary ANCA associated small vasculitis（AAV） in Guangxi Han people.Methods A case contrastive control study was adopted in the study. Patients with AAV（patients group, n = 110）and healthy people（control group, n = 200） were recruited. Associated serum indexes were detected and polymorphisms of TLR2 gene promoter 597 T / C were analyzed by polymerase chain restricted fragment length polymorphisms（PCR-RFLP）. Results（1）Three TLR2-597 T / C genotypes were discovered in 110 AAV patients,namely, TT, TC and CC, with the frequency of 54.55%,40.00% and 5.45% respectively. And the frequencies of allele T and C were 74.55% and 25.45%. In control group, the genotype frequencies of TT, TC and CC were 56.00%,40.50% and 3.50%, with 76.25% of allele T and 23.75% of allele C. No significant differences were found in neither genotype distribution nor allele frequencies between the patients group and control group（ P〉0. 05）.（ 2） Significant differences were found in the incidence of proteinuria rate and the hemoglobin（P〈0.05）in AAV patients.（3）There was no significant difference between AI and CI in TT, TC and CC genotype in AAV patients. Conclusions Polymorphism of TLR2-597 T / C may be correlated with the incidence of proteinuria and the level of hemoglobin, while no obvious correlation with the genetic susceptibility of ANCA in vasculitis patients of Guangxi Han people.

关 键 词：ANCA相关性小血管炎 TLR2 单核苷酸多态性 遗传易感性 

分 类 号：R593.2[医药卫生—内科学]