家族性2型糖尿病162个家系调查研究

目的　建立可用于系统研究 2型糖尿病 (T2 DM )遗传和环境危险因素的高发家系人群 ,探索家族性 2型糖尿病的遗传方式。方法　已诊断有糖尿病家族史的糖尿病先证者 175个进行 3代家族史和血统成员的调查研究 ,全部非糖尿病患者采血做OGTT确认 ,排除 1型糖尿病、MODY型和线粒体遗传阳性家系 ,最终筛选出具有 2个或 2个以上 2型糖尿病患者的家系 162个 (共 898例 )。全部家系成员均检查血糖、血脂、胰岛素C肽释放试验。结果　有 2个T2 DM患者的家系 91个 ,占5 6 2 % ;有 3个T2 DM患者的家系 61个 ,占 3 7 7% ;2代均有T2 DM患者的家系有 15 1个 ;3代均有T2 DM患者的家系 11个。先证者一级亲属 3 69人 ,其中患 2型糖尿病病 2 61例 ,占一级亲属的 70 7% ;先证者的同胞 2 78例 (不包括先证者 )中 ,有 2型糖尿病患者 12 6例 ,占 45 3 % ,同胞患病率是其配偶的 6 1倍。在 162个家系中未观察到有统计学意义的母系效应 ,男女两性的患病率没有显著差异。结论　有家族史的 2型糖尿病患者有明显的家族聚集性 ,其发病与遗传密切相关 ;其遗传方式不完全支持多基本因遗传 ,似支持孟德尔常染色体显性遗传

Familial investgation of 162 pedigree type 2 diabetes mellitus

Objective: To constitute a crowd of multiple familial type 2 diabetes mellitus(T_2DM) for study of genetics and enviroment risk factors on T_2DM, and investigate the inherited mode of familial T_2DM. Methods:175 patients in two or more T_2DM generations were chosen and all the people were confirimed by OGTT. 162 pedigrees with two or more T_2DM patients were analyzed after the T_1DM, MODY and mitochondrial gene mutation pedigrees were excluded. The survey includes tests of blood glucose, insulin, C、peptide, lipids, etc. Results: The pedigrees that have T_2DM in two generations were 151 while 11 in three, the prevalence in folks was 70.7%, newly、affirmed prevalence of diabetes in the siblings was 45.3%, which is 6.1 times of the spouse group. Maternal and sexual effect could not be seen. Conclusions: Familial T_2DM had a familial aggregation. It was not inherited in the manner fully as polygene inheritance, but seams to be of Mendelian autosomal dominant inheritance.