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.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
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）
