IL-6基因单核苷酸多态性与系统性红斑狼疮的相关性研究  

Association study of single nucleotide polymorphism of IL-6 and systemic lupus erythematosus

作　　者：温鹏飞[1] 王晓松[1] 张敏[1] 李蕊[1] 邱丽娟[1] 倪婧[1] 潘海峰[1] 叶冬青[1] 

机构地区：[1]安徽医科大学公共卫生学院流行病与卫生统计学系,安徽合肥230032

出　　处：《中华疾病控制杂志》2014年第4期277-280,共4页Chinese Journal of Disease Control & Prevention

基　　金：国家自然科学基金(81172764)

摘　　要：目的探讨白细胞介素(interleukin,IL)6单核苷酸多态性(single nucleotide polymorphism,SNP)(rs1800796)与系统性红斑狼疮(systemic lupus erythematosus,SLE)的易感性。方法选取SLE患者666例作为病例组,年龄、性别匹配的569例正常人作为对照组,采用TaqMan基因分型技术检测rs1800796基因型频率。结果 Rs1800796 SNP的基因型(CC,CG和GG)频率和等位基因(C和G)频率在SLE患者和对照间差异均无统计学意义(均有P>0.05)。Rs1800796与SLE临床表现的关联性分析发现,C等位基因频率在伴有浆膜炎的SLE患者中低于不伴有浆膜炎的SLE患者(P=0.019)。但C等位基因频率的分布在是否表现有颧部红斑、盘状红斑、光敏感、口腔溃疡、关节炎及狼疮肾炎的SLE病人间差异均无统计学意义(均有P>0.05)。结论尚未发现IL-6rs1800796在中国汉族人群与SLE遗传易感性有关。Rs1800796 C等位基因可能对SLE病人并发浆膜炎起保护作用。Objective The aim of this study was to explore whether single nucleotide polymorphism（ SNP） rs1800796 in interleukin-6（ IL-6） gene was associated with susceptibility to systemic lupus erythematosus（ SLE）. Methods 666 SLE patients and 569 age-and sex-matched healthy controls were recruited to determine the genotype frequencies of SNP rs1800796 by TaqMan SNP Genotyping Assay Kit. Results There were no significant differences in genotype and allele frequencies of rs1800796 between SLE patients and healthy controls. Analysis of rs1800796 and clinical features indicated that the allele C frequency of rs1800796 was lower in patients with serositis than patients without serositis（ P = 0. 019）. However,no significant differences were found between patients with and without malar rash,discoid rash,photosensitivity,oral ulcers,arthritis and lupus nephritis（ LN）. Conclusions The present data demonstrate no association between rs1800796 SNP in IL-6 gene and SLE in Chinese Han population. Rs1800796 C allele might be a protective factor for patients against serositis.

关 键 词：红斑狼疮 系统性 多态性 单核苷酸 白细胞介素6 

分 类 号：R593.241[医药卫生—内科学] R181.26[医药卫生—临床医学]