Graves病甲亢肝损害与CD40基因C/T单核苷酸多态性相关性的研究  

Association between Hepatic Injury of Graves' Disease and a C/T Single-Nucleotide Polymorphism of the CD40 Gene

作　　者：罗惠辛[1] 张鹏[1] 高志红[1] 邱明才[1] 

机构地区：[1]天津医科大学总医院内分泌科,300052

出　　处：《天津医药》2006年第8期525-526,共2页Tianjin Medical Journal

摘　　要：目的:探讨CD40基因5′非翻译区域-1位点C/T多态性和中国天津地区汉族人Graves病(GD)甲亢肝损害发病的相关性。方法:采用序列特异性聚合酶链式反应—限制性内切酶酶切长度多态性(PCR-RFLP)方法分析60例GD甲亢患者,60例GD甲亢肝损害患者CD40基因5′非翻译区域-1位点C/T多态性,并和106例正常对照组比较。结果:天津地区汉族人CD40基因5′非翻译区域-1位点基因型、等位基因型在正常对照组、GD甲亢肝功正常患者、GD甲亢肝功异常患者差异有统计学意义(P<0.05),但在GD甲亢肝功正常患者与GD甲亢肝功异常患者差异无统计学意义(P>0.05)。结论:CD40基因可能是GD甲亢的一种易感基因,但并非GD甲亢肝损害的易感基因。Objective： To investigate the relationship between a C/T single-nucleotide polymorphism （SNP） in the 5＇-untranslated region （UTR） of the CD40 gene and hepatic injury of Graves＇ disease （GD） in the Han nationality of Tianjin, China. Methods： Three groups were included in this study： 60 GD patients with hepatic injury, 60 GD patients without hepatic injury and 106 normal subjects. Polymerase chain reaction and restriction fragment length polymorphism technique （PCR-RFLP）were employed to assess the SNP in 5＇UTR of CD40 （C-T, position-1）. The data were analyzed by case control association. Results： There were significant differences in CD40 gene 5＇UTR C/T-1 SNP among GD patients with hepatic injury, GD patients without hepatic injury and normal subjects. Meanwhile there was no significant difference in CD40 gene 5＇UTR C/T-1 SNP between GD patients with hepatic injury and those without hepatic injury. Conclusion： The findings suggested that CD40 gene 5＇UTR C/T-1 SNP may be susceptible genes to GD instead of hepatic injury of GD.

关 键 词：CD40配体 格雷夫斯病 肝疾病 多态性现象 遗传 聚合酶链反应 

分 类 号：R581.11[医药卫生—内分泌] R394[医药卫生—内科学]