2型糖尿病家系与尾加压素2基因多态性

目的探讨我国常州地区汉族家系2型糖尿病与尾加压素2(urotensinⅡ,UT-Ⅱ)基因rs228648多态性位点的关系。方法采用家系内外对照的病例对照研究,并设置无家族史的普通病例组,应用聚合酶链反应-限制性片段长度多态性技术,对rs228648(G/A)多态性进行基因分型。结果家系中携带AG和AA基因型者患病风险分别为GG型的1.98(95%可信区间=1.19～3.29)和2.46(95%可信区间=1.39～4.34)倍,家系病例组A等位基因频率高于内对照组及普通病例组(P=0.01)。内对照组A等位基因频率高于外对照组(P=0.001)。内对照组携带AG基因型者的胰岛素抵抗指数、胰岛素敏感指数以及胰岛初期分泌功能指数均高于GG基因型者(P<0.05)。结论rs228648多态性位点变异可能是2型糖尿病的危险因素之一,家系人群该基因变异与其胰岛功能间存在关联。

Relationship between polymorphism of urotensin Ⅱ gene and type 2 diabetes in pedigrees

OBJECTIVE: To investigate the association between a polymorphism (rs228648) of urotensin II (UT-II) gene and type 2 diabetes in pedigrees. METHODS: Patients and controls with/without familial history were enrolled in the same place. RESULTS: Carriers with AG or AA genotype from pedigrees had higher disease risk than those with GG genotype (OR=1.98, 95% CI:1.19-3.29,OR=2.46,95% CI:1.39-4.34), the frequency of A allele was higher in the patients from pedigrees than inner controls and patients who had no familial history (P=0.01). The frequency of A allele was higher in the inner controls than outer ones (P=0.001). The insulin resistance index, insulin sensitivity index and pancreatic secretion index of inner controls with AG genotype were higher than those with GG genotype (All P < 0.05). CONCLUSION: This polymorphism of UT-II gene might be a risk to type 2 diabetes, the insulin function of people from pedigrees is associated with the mutation.