汉族人中MFG-E8基因的多态性与系统性红斑狼疮的关系  

Association of polymorphisms in MFG- E8 gene with systemic lupus erythematosus in the Chinese Han population

作　　者：陈杰[1] 饶亚华 朱建华[1] 

机构地区：[1]武汉市第一医院检验科,430022

出　　处：《免疫学杂志》2015年第11期1009-1012,共4页Immunological Journal

摘　　要：目的探讨MFG-E8基因的多态性是否与SLE的易感性有关。方法在173个SLE患者和170个健康对照者中,用聚合酶链式反应限制性片段长度多态性（polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP）的方法分析MFG-E8基因rs4945 C〉A和rs1878326 C〉A 2个突变位点的基因型分布频率。同时分析SLE患者血浆中MFG-E8的质量浓度与基因型的关系。结果 MFG-E8基因的rs1878326 C〉A多态性位点与SLE的易感性相关（C等位基因vs A等位基因：调整后的OR=0.678,95%CI：0.495~0.930,P=0.016）,但是没有发现rs4945与SLE易感性相关（C等位基因vs A等位基因：调整后的OR=0.923,95%CI：0.587~1.450,P=0.728）。rs1878326的A等位基因和CA基因型能降低SLE发生的风险（调整后的OR=0.678,95%CI：0.495~0.930,P=0.016;调整后的OR=0.415,95%CI：0.210~0.819,P=0.011）。此外,我们发现rs1878326 C〉A的基因型并没有影响SLE患者血浆中MFG-E8的浓度（n=89,F=1.611,P=0.206）。结论基于以上基因型分析的结果,MFG-E8基因的rs1878326C〉A多态性与汉族人SLE的易感性相关。但是,rs1878326 C〉A的突变并不影响MFG-E8的血浆浓度。该结果是基于有限的小样本的研究,需要大规模的研究来进一步证实该结果。MFG-E8-/-mice spontaneously develop a systemic lupus erythematous（SLE）-like autoimmune disease, which is associated with an impaired clearance of apoptotic cells. The aim of this study was to explore whether polymorphisms in the MFG-E8 gene were associated with susceptibility to SLE. Two polymorphisms in MFG-E8（rs4945 C〉A and rs1878326 C〉A） were analyzed by polymerase chain reaction restriction fragment length polymorphism（PCR-RFLP） in 173 SLE patients and 170 controls. Association between the MFG-E8 plasma concentration and rs1878326 genotype was analyzed. The polymorphism rs1878326 C〉A of MFG-E8 gene was found to be associated with susceptibility to SLE in the central China Han population（C allele vs A allele： adjusted OR=0.678, 95%CI： 0.495-0.930, P=0.016）, while rs4945 was not（C allele vs A allele： adjusted OR=0.923, 95%CI：0.587-1.450, P=0.728）. The rs1878326 A allele and C〉A genotype decreased the risk of SLE（adjusted OR=0.678;95%CI： 0.495-0.930; P=0.016 and adjusted OR=0.415, 95%CI： 0.210-0.819, P=0.011）. In addition, data revealed that the rs1878326 C〉A genotype did not affect the plasma MFG-E8 concentration in the patients（n=89, F=1.611,P =0.206）. Based on genetic evidence, we concluded that the rs1878326 C〉A polymorphism of MFG-E8 gene is associated with the susceptibility to SLE in Chinese Han Population. However, rs187836 C〉A may not affect the plasma concentration of MFG-E8.

关 键 词：系统新红斑狼疮 基因多态性 乳脂球表皮生长因子8 

分 类 号：R593.241[医药卫生—内科学]