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

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TLR2597T／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 -597T/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 597T/C were analyzed by polymerase chain restricted fragment length polymorphisms (PCR-RFLP). Results (1)Three TLR2-597T/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 TLR2-597T/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.