NeuroD1基因A45T多态性与自身抗体阴性的酮症倾向糖尿病的关系

Relationship of neuroD1 A45T gene polymorphism with ketosis-prone diabetes in patients without islet autoantibody

目的探讨NeuroD1基因A45T多态性与胰岛自身抗体阴性的酮症倾向糖尿病(KPD)的关系。方法应用PCR-测序法对296例GAD-Ab和IA-2Ab阴性酮症倾向糖尿病患者(KPD组)和399例非糖尿病对照者(NC组)检测了NeuroD1基因外显子2的A45T基因型,对等位基因和基因型频率进行分析。结果自身抗体阴性的KPD患者NeuroD1基因A45T的AA基因型频率和A等位基因频率与NC组比较差异均无显著性。对患者进行年龄和性别分层后仍未发现NeuroD1基因A45T基因型和等位基因频率与对照组有差别。结论在本组汉族人中,NeuroD1基因的Ala45Thr多态性与自身抗体阴性KPD无相关性。

Objective To study the relationshpip of the A45T polymorphism of NeuroD1 gene with islet autoantibody-negative patients with ketosis-prone diabetes in a Chinese Han population. Methods The A45T polymorphism of exon 2 within NeuroD1 gene was analyzed by PCR sequencing-based typing method in 399 non-diabetic control subjects （NC group） and 296 patients with ketosis-prone diabetes （KPD group）, who were negative both for glutamic acid decarboxylase antibody （GAD-Ab） and for protein tyrosine phosphatase antibody （IA-2Ab）. The distribution and characteristics of NeuroD1 genotypes were studied in KPD group and NC group. Results There was no significant difference in frequency of AA genotypes and A allele of NeruoD1 gene A45T polymorphism between autoantibodynegative KPD patients and control subjects （p= 0.34）. No significant difference was found in genotypic frequency of NeuroD1 A45T between KPD patients and control subjects when patients were age- and genderstratified. Conclusions No relationship of neuroD1 gene Ala45Thr polymorphism with islet autoantibody negative KPD is found in Chinese Han population.