RNASET2基因多态性与山东沿海地区汉族人Graves病的相关性  

Association of RNASET2 gene polymorphisms and haplotypes with Graves disease in Han Chinese population from coastal regions of Shandong

作　　者：王宝苹[1] 韩琳[1] 佟晶洁[4] 王燕[2] 贾兆通[3] 孙明霞[1] 王海丽[1] 

机构地区：[1]山东省青岛大学医学院附属医院痛风病实验室,266003 [2]山东省青岛大学医学院附属医院体检中心,266003 [3]山东省青岛大学医学院附属医院内分泌科,266003 [4]青岛大学职工医院

出　　处：《中华医学遗传学杂志》2013年第6期693-696,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30971595、30771017）

摘　　要：目的探讨中国山东沿海地区汉族人群RNASET2基因多态性位点（singlenucleotidepolymorphism，SNP）与Graves病（Gravesdisease，GD）的相关性。方法应用TaqMan探针技术在FluidigmEPl平台上对471例Graves病患者和472名健康对照者的标签SNP进行基因分型并构建单倍型。结果rs3777722、rs3777723和rs9355610等位基因频率在GD组和对照组中差异有统计学意义（P=0．018；P=0．028；P=0．021）。GD组携带rs3777722=A等位基因频率显著偏低（P=0．018），且rs9355610=A等位基因频率显著偏低（P：0．021）。rs3777722的3种基因型A／A、A／c、c／c，以及rs9355610的3种基因型A／A、A／G、G／G在两组中分布显著不同（P=0．035，P=0．018）。A—A—C—A和A—A—T—A单倍型频率在对照组明显高于GD组，差异有统计学意义（P=0．046，OR=0．448，95％CI：o．2001．006；P=0．049，OR=0．823，95％CI：0．678～O．999），而C—pDG单倍型频率在GD组明显高于对照组（P=0．018），该单倍型发生GD的风险增加1．257倍（95％CI：1．0401．520）；其他单倍型在两组间的分布差异无统计学意义。结论RNASET2基因多态性及单倍型与山东沿海地区汉族人GD的发生相关。rs3777722和rs9355610是GD发病的易感位点。Objective To assess the association of RNASET2 gene polymorphisms and haplotypes with Graves disease （GD） in Han Chinese population from coastal regions of Shandong Province. Methods A total of 471 GD patients and 472 controls were enrolled. Genotypes of single nucleotide polymorphisms （SNPs） in RNASET2 gene were determined with a Taqman probe on a Fluidigm EP1 platform. Haplotypes and their frequencies were analyzed with a SHEsis online software. Results There was a significant difference in allele frequencies of rs3777722, rs3777723 and rs9355610 between the GD patients and the controls （P = 0. 018; P = 0. 028; P = 0. 021）. Allele frequencies of rs3777722 and rs9355610 were significantly lower in GD than in the controls （P=0. 018,P=0. 021）. Haplotypes A-A-C-A and A-A-T-A were significantly more common in the control group compared with the GD group （P= 0. 046,0R=O. 448, 95%CI：0.200-1.006;P=0.049,OR=0.823,95%CI：0.678-0.999）. The frequency of C-G-C-G haplotype was significantly higher in GD patient group than the control group （P=0. 018）. Conclusion RNASET2 gene polymorphisms and haplotypes are associated with GD in Han population from coastal areas of Shandong Province. rs3777722 and rs9355610 may contribute to the risk for GD.

关 键 词：RNASET2基因 单核苷酸多态性 单倍型 GRAVES病 

分 类 号：R581.1[医药卫生—内分泌]