2型糖尿病家系遗传特征的初步分析

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

目的对2型糖尿病（T2DM）家系的遗传特征进行初步分析。方法埘有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。一级亲属巾同胞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。

Objective 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 T2DM and impaired glucose regulation （IGR） was 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.