胰十二指肠同源异型盒基因-1多态性与2型糖尿病的相关性

Association between polymorphism of PDX-1 gene and type 2 diabetes mellitus

目的探讨胰十二指肠同源异型盒基因(PDX)-1多态性位点(rs4415872,rs1124607和rs4581569)与上海汉族人群2型糖尿病的关系。方法选取1 285例正常健康个体为对照组,经确诊的1 245例2型糖尿病患者为病例组。收集静脉血液标本1 ml,提取全基因组DNA。应用Taqman基因分型技术进行多态性检测。结果与对照组相比,PDX-1基因rs1124607位点的基因型和等位基因频率分布在病例组中具有统计学意义[基因型:P=7.82×10^(-5);等位基因:P=0.000 9,OR=0.780(0.688~0.886)]经Bonferroni矫正后仍具有统计学差异(基因型:P=2.35×10^(-4);等位基因:P=0.000 3)。结论 PDX1基因rs1124607位点可能与上海汉族人群2型糖尿病具有相关性。

Objective To study the association of pancreatic and duodenal homeobox 1 （PDX-1） polymorphism （rs4415872, rs1124607 and rs4581569） with type 2 diabetes mellitus（T2DM） in Han population of Shanghai. Methods 1 245 cases of T2DM patients were recruited as case and 1 285 healthy individuals were selected as control. 1 ml of blood sample was collected from each subject, from which the whole genomic DNA was extracted. The polymorphism was detected by Taqman technology. Results Significant association was observed in PDX-1 rs1124607 genotypes and alleles with T2DM [P=7.82×10^5 and P=0.000 1,OR=0. 78（0.68 -0.87） ,respectively]. After Bonferroni correction,significant association was still detected. Conclusions The polymorphism of rs1124607 in PDX-1 gene may be associated with T2DM in Hart population from Shanghai region.