SCGB3A2基因启动子区SNPs与Graves病相关性研究  

SNPs in the SCGB3A2 promoter are associated with susceptibility to Graves＇ disease

作　　者：梁军[1] 王玉[1] 赵双霞[2] 施静艺[2] 彭永德[3] 高冠起 潘春明[2] 袁国跃[5] 韩兵[2] 苏青[6] 高聆[7] 陈名道[2] 赵家军[7] 宋怀东[2] 

机构地区：[1]江苏省徐州市中心医院,徐州医学院徐州临床学院内分泌科,221009 [2]上海交通大学附属瑞金医院医学分子中心、医学基因组学国家重点实验室、上海市内分泌代谢病研究所 [3]上海交通大学附属第一人民医院内分泌科 [4]山东省临沂人民医院内分泌科 [5]江苏大学附属医院内分泌科 [6]上海交通大学医学院附属新华医院内分泌科 [7]山东大学附属省立医院内分泌科

出　　处：《中华内分泌代谢杂志》2012年第12期989-993,共5页Chinese Journal of Endocrinology and Metabolism

基　　金：基金项目：国家高科技项目（863）;国家自然科学基金（30530370、30470816、30771017、30971595、81270863）

摘　　要：目的探讨SCGB3A2基因启动子区单核苷酸多态性（SNPs）与Graves病（GD）的相关性。方法对与甲亢发生紧密连锁的微卫星标志D5s2090周围3．0Mb区域内（上游及下游3．0Mb范围内）的179个SNPs进行病例对照分析，筛选出相关基因。结果对与甲亢发生紧密连锁的微卫星标志D5s2090周围3．OMb区域内的179个SNPs筛查。发现SNPrsl368408在病例组与对照组间的差异有统计学意义（P=3．69×10^-5），进一步通过精细定位，对该SNP位点附近的大量SNP进行关联分析，发现SCGB3A2基因启动子区的SNP76（P=4．11×10^-8）和SNP75（P=1．37×10^-8）与甲亢发生密切相关，回归分析发现这两个SNP位点可能是该区段的甲亢致病易感位点。结论提示SCGB3A2为GD相关基因。Objective To investigate the association of single nucleotide polymorphisms （SNPs） in the SCGB3A2 （ secretoglobin family 3 A member 2） gene promoter with susceptibility of Graves＇ disease. Methods One- hundred and seventy-nine SNPs within a 3.0 Mb region surrounding marker D5s2090 were scanned in a case-control study. The size of the region （s） associated with GD was then narrowed. Results Total 179 SNPs within a 3.0 Mb region surrounding marker D5s2090 were analyzed. The most significant association signal was found at SNP rs1368408 （P = 3.69 × 10^-5 ）. Subsequent association analysis was then performed and the resuhs suggested that the SNP76 （ P = 4.11 × 10^-8 ） and SNP75 （ P = 1.37 × 10^-8 ） in the promoter of SCGB3 A2 gene may be the causal variants of GD. Logistic regression analysis suggested these 2 SNPs in this region may contribute to GD susceptibility. Conclusion A significant association seems to exist between GD with the SCGB3A2 gene.

关 键 词：格雷夫斯病 SCGB3A2基因 启动子 多态性 单核苷酸 

分 类 号：R581.1[医药卫生—内分泌]