IL-6和IL-18基因启动子多态性与广东汉族人群类风湿性关节炎相关性研究  

Association of interleukin-6 and interleukin-18 gene polymorphism with rheumatoid arthritis in Guangdong Han population

作　　者：黄宪章[1] 庄俊华[1] 任燕歌[1] 周罗晶[2] 周强[1] 

机构地区：[1]广东省中医院二沙岛分院检验科,广东广州510105 [2]广东省中医院流行病学研究室,广东广州510105

出　　处：《南方医科大学学报》2007年第11期1661-1664,共4页Journal of Southern Medical University

基　　金：广东省自然科学基金(04010056)~~

摘　　要：目的了解我国广东地区汉族人群白细胞介素-6(IL-6)和白细胞介素-18(IL-18)基因启动子单核苷酸多态性及与类风湿性关节炎(RA)的相关性。方法应用序列特异性引物-聚合酶链反应(PCR-SSP)技术检测168名健康体检者和120例RA患者的IL-6基因启动子-572和-174及IL-18基因启动子-607C/A和-137G/C单核苷酸多态性。结果对照组和患者组IL-6基因启动子-572位点、-174位点和IL-18基因启动子-607C/A位点、-137G/C位点均存在单核苷酸多态性。IL-6-572位点、-174位点和IL-18-607位点基因型和等位基因频率分布在RA组和对照组间差异均有显著性(P<0.001)。IL-18-137位点基因型频率在两组间无统计学意义(P=0.141),但等位基因分布频率在两组间差异有显著性(P=0.024)。经Logistic回归分析,年龄、性别、IL-6-572位点、-174位点和IL-18-137位点与RA有相关性(P<0.05)。结论广东汉族人群IL-6基因启动子-572和-174单核苷酸多态性与RA可能相关,IL-18基因启动子-607C/A和-137G/C单核苷酸多态性与RA是否相关需进一步研究。Objective To investigate the single-nucleotide polymorphisms （SNTs） at positions -572 and -174 in the promoter region of interleukin-6 （IL-6） gene and at -607 and -137 in the promoter region of interleukin-18 （IL-18） gene for their association with rheumatoid arthritis （RA） in the Chinese Han population in Guangdong Province. Methods SNPs of IL-6 and IL-18 genes were detected in 120 patients with RA and 168 normal subjects using polymerase chain reaction with sequence-specific primers （PCR-SSP）. Results SNTs at -572 and -174 of IL-6 gene and at -607 and -137 of IL-18 gone were detected in this population. There was a significant difference in the genotype and allele frequency at -572 and -174 of IL-6 gene and -607 of IL-18 gene （P〈0.001）, but not in the distribution of genotype frequencies at -137 of IL-18 gene between the RA patients and healthy subjects （P=0.141）. A significant difference was found, however, in the allele frequency at -137 of IL-18 （P=0.024）. Logistic regression analysis revealed significant association of age, gender, IL-6 gene -572, -174 and IL-18 gene -137 SNTs with RA （P〈0.05）. Conclusions The polymorphisms of the promoter region of IL-6 gene at positions -572 and -174 is probably associated with RA, and further study is needed to understand the relation of the polymorphisms of IL-18 gene at positions -607C/A and-137G/C with RA.

关 键 词：类风湿性关节炎 白细胞介素-6 白细胞介素-18 基因多态性 启动子 

分 类 号：R593.22[医药卫生—内科学]