巨噬细胞移动抑制因子启动子区基因多态性与成人斯蒂尔病的关系研究  

Macrophage migration inhibitory factor promoter polymorphisms and predisposition to adult onset Still＇sdisease in Chinese population

作　　者：王芳芳[1] 王苏丽[1] 吕良敬[1] 

机构地区：[1]上海交通大学医学院附属仁济医院风湿科,200001

出　　处：《中华风湿病学杂志》2012年第8期508-511,共4页Chinese Journal of Rheumatology

基　　金：国家自然科学基金（30671946,81072469）;上海市自然科学基金（09ZRl417600）

摘　　要：目的研究成人斯蒂尔病（AOSD）患者巨噬细胞移动抑制因子（MIF）基因5’端启动子区-173和．794位点核苷酸多态性与疾病易感性的关系。方法采用酶联免疫吸附法检测82例AOSD患者和55名健康志愿者血浆MIF的表达。从AOSD患者和健康者中提取基因组DNA。聚合酶链反应一限制性片段长度多态性分析法（PCR-PFLP）检测5’端启动子区-173位点核苷酸多态性，并对-794位点微卫星序列PCR产物直接进行基因分型。病例组与健康对照组之间。173G／CSNP和-179CATF重复序列的基因与基因型频率比较采用Peamonχ2检验，血浆MIF数值采用非参数Mann-WhitneyU检验。结果AOSD患者组血浆MIF水平为（119e113）ng/ml，显著高于健康对照组（55±29）ng/m1（P〈0．01）。携带有．173＊C等位基因的个体疾病易感性增加[OR=1．776；95％可信区间（CI）1．101-2．864；P=0．017]；携带有-794＊5．CATF等位基因的个体患AOSD风险增加（OR=1．81；95％CI1．27-2．58；P=-0．001）。结论MIF基因启动子区-173和-794位点核苷酸多态性影响AOSD的易感性。Objective To investigate the role of macrophage migration inhibitory factor （MIF） gene polymorphisms in adult onset Still＇s disease（AOSD）. Methods Plasma MIF levels were measured by enzymelinked immunosorbent assay （ELISA）. Genomic DNAs were collected from patients and controls. The polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） assay and short tandem repeat genotyping were used to detect the polymorphisms of MIF gene promoter. The -173 G/C SNP and -794 CA3~F repeat genotypc and allele frequencies between patients and controls were capared using pearson＇s Chi-square test. The non-parmetric Mann-Whithey U test was conducted to compare MIF expressin between cases and controls. Results Plasma MIF levels were significantly higher in AOSD （119±113） ng/ml than those in controls （55± 29） ng/ml （P〈O.01）. Individuals with -173 ＊ C allele （OR=1.776; 95%CI 1.101-2.864; P=0.017） or -794 ＊ 5-CATY allele （0R=1.81;95%CI 1.27-2.58; P=0.001） were at increased risk for AOSD. Conclusion The MIF gene polymorphisms are associated with AOSD.

关 键 词：STILL病 成人型 巨噬细胞移动抑制因子 基因多态性 

分 类 号：R593.2[医药卫生—内科学]