2型糖尿病家系遗传特征的初步分析

目的 对2型糖尿病(T2DM)家系的遗传特征进行初步分析.方法 对有2例或2例以上T2DM患者的715个家系共4468名成员(包括配偶),由专门小组调查并采血样进行分析.结果 4468名成员中T2DM和糖调节受损(IGR)总患病率为47.62%,新检出T2DM患者218例,IGR患者422例.一级亲属中同胞T2DM、IGR的患病率分别为38.33%、14.25%,父母分别为56.81%、12.58%,均高于二级亲属(9.55%、6.10%)及无T2DM家族史的配偶患病率(10.57%、9.55%,均P＜0.01).先证者的子女IGR患病率及新检出率(12.46%、11.73%)明显高于配偶(9.55%、9.55%,均P＜0.01).结论 T2DM的发病具有明显的家族聚集性,其一级亲属是T2DM和IGR的高危人群,对该人群宜开展早期筛查及长期监测.

Genetic characteristics of familial type 2 diabetes pedigrees:a preliminary analysis of 4468 persons from 715 pedigrees

Obiective To analyze the inheritance character of type 2 diabetes mellitus(T2DM)pedigrees.Methods 4468 persons from 715 T2DM pedigrees(including the spouses)undergo peripheral blood sample collection to examine blood sugar and physical examination.Questionnaire survey was conducted to explore the family history.Type 1 DM and maturity-onset DM of young people were to be ruled out.Pedigree chart were made.Results The prevalence rates of 12 DM and impaired glucose regulation(IGR)wsa 47.62%,including 218 T2DM and 422 IGR newly discovered.The prevalence rates of T2DM and IGR were 38.33% and 14.25% in the siblings,and 56.81% and 12.58% in the parents,all significantly higher than those in the second-degree relatives(9.55% and 6.10%)and spouses(10.57% and 9.55% respectively,all P＜0.01).The prevalence and newly discovered rates of IGR in the offspring were 12.46% and 11.73% respectively,both significantly higher than those in the spouses(9.55% and 9.55% respectively,all P＜0.01).Conclusion There is significant familial aggregation in T2DM.The first-degree relatives of T2DM patients are high risk populations,so long term monitoring and early screening should be performed.