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

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.

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

Objective To investigate the single-nucleotide polymorphisms(SNPs) 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 SNPs at-572 and-174 of IL-6 gene and at-607 and-137 of IL-18 gene 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 SNPs 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.