硬骨鱼紧张素Ⅱ基因多态性与中国人2型糖尿病遗传易感性的关系

The role of urotensin Ⅱ gene in the genetic susceptibility to type 2 diabetes in Chinese population

目的 探讨硬骨鱼紧张素Ⅱ (UrotensinⅡ )基因中rs2 2 8648位点多态性与汉族人群 2型糖尿病遗传易感性之间的关系。方法 采用病例 对照研究的方法 ,对象 1 2 1例正常对照者 ,1 66例散发 2型糖尿病患者 ,87位来自 2型糖尿病家系中的糖尿病先证者。采用聚合酶链式反应 限制性内切酶片段长度多态性 (PCR RFLP)技术 ,对其硬骨鱼紧张素Ⅱ基因中rs2 2 8648(G A)多态性进行基因分型。结果 (1 )同对照组相比 ,rs2 2 8648的G等位基因频率在散发 2型糖尿患者群 (第 1个病例组 )及2型糖尿病家系的先证者人群 (第 2个病例组 )中显著增高 ,分别为 62 3 %及 50 4% (P =0 0 0 4 )和75 3 %及 50 4% (P <0 0 0 1 )。 (2 )rs2 2 8648G G基因型与 2型糖尿病相关 ,经Logistic回归分析 ,并经性别、年龄和BMI调整 ,其指标比数比 ,即OR值在散发 2型糖尿病为 1 86 ,P =0 0 4 1 ;在 2型糖尿病家系先证者为 4 0 3 (P =0 0 0 0 )。结论 硬骨鱼紧张素Ⅱ基因或与其呈连锁不平衡的其他糖尿病基因在决定中国人

Objective To investigate the relationship between the polymorphism of site rs228648 in urotensin Ⅱ gene and the genetic susceptibility to type 2 diabetes in Han people Methods Genotyping was conducted to investigate the polymorphism of site rs228648 (G A) in urotensin Ⅱ gene among 166 unrelated type 2 diabetic subjects (case group 1), 87 probands from 87 families of type 2 diabetics (case group 2), and 121 non diabetic normal controls (control group) Results 1) The frequency of 'G' allele of site rs228648 was 62 3% and 75 3% in case group 1 and case group 2 respectively, significantly higher than that in the control group (50 4%, P =0 004 and P <0 001) 2) The frequency of G/G genotype of rs228648 was 35% and 53% in case group 1 and case group 2 respectively, significantly higher than that in the control group (24%, P <0 05 and P <0 01) The odds ratio was 1 86, P =0 041 in the case group 1 and 4 03, P<0 001 in the case control 2 after adjustment by sex, age and BMI Conclusion Urotensin Ⅱ gene may contribute to the genetic susceptibility to type 2 diabetes in Han population