RXRα基因遗传变异与2型糖尿病易感性的关系

The relationship between RXRα genetic variation and susceptibility of type 2 diabetes

目的探讨江苏汉族人群视黄醛X受体α(RXRα)基因遗传变异与2型糖尿病(Type2 diabetes Mellitus,T2DM)易感性的关系。方法采用病例对照研究,选取新诊断的T2DM患者1 105例,与患者年龄、性别频数匹配的健康对照1 107例,用Real-time PCR联合Taqman-MGB探针方法进行基因型检测。结果在调整性别、年龄和体重指数等因素后,4个多态位点均未发现与T2DM易感性存在统计学关联(均P>0.05)。然而,RXRα基因4个潜在功能性位点构成的主要单倍型中,与最常见的单倍型GTAT相比,TTAT单倍型(含变异等位基因rs1045570T)可显著降低T2DM的患病风险〔调整OR(95%CI)=0.868(0.801～0.940)〕。结论 RXRα基因遗传变异可能与江苏汉族人群T2DM遗传易感性有关。

Objective To explore the relationship between the RXRα gene and the susceptibility of type 2 diabetes（T2DM） in Han population of Jiangsu.Methods TaqMan assay was performed to test the genotypes in first-diagnosed T2DM patients（n=1 105） and normal controls（n=1 107）.Results Analysis of RXRα gene 4 SNPs showed that there were no significant difference between T2DM cases and controls（all P〉0.05）.However,TTAT haplotype（rs1045570T）was associated with a protective effect of T2DM（adjust OR（95%CI）= 0.868（0.801~0.940）） compared with common GTAT haplotype from 4 potentially functional SNPs of RXRα gene.Conclusions The RXRα gene variants might have play a role in the susceptibility of T2DM in Han population of Jiangsu.