GENETICS OF TYPE II DIABETES MELLITUS AND OBESITY

II 型糖尿病和肥胖的遗传学

• 批准号: 6121424
• 负责人: Jeremy D Walston
• 金额: $ 6.52万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6121424
• 关键词: clinical research; diabetes mellitus genetics; ethnic group; family genetics; genetic susceptibility; genotype; glucose tolerance test; human data; human genetic material tag; human population study; human tissue; noninsulin dependent diabetes mellitus; obesity; phenotype; quantitative trait loci; statistics /biometry

The Old Order Amish of Lancaster County, Pennsylvania initially numbered in the hundreds, and are now a population of over 200. This population is a well-defined, genetically homogeneous Caucasian population with very large sibships, a high degree of consanguinity, and well documented genealogies. The goal of this study is to recruit and phenotypically characterize large multiplex pedigrees with noninsulin dependent diabetes mellitus (NIDDM) for a genome-wide search for susceptibility genes for this heterogeneous and polygenic disorder. To date, over a thousand subjects have been studied. These individuals are from 80 two- and three-generation families constituting one extended pedigree and over 2000 sib pairs. Of the first consecutive 258 subjects recruited, 16.2% had diabetes if they had a first degree relative with diabetes, compared to only 6.5% if there was no first degree relative with diabetes (RR 2.5; p</-0.01, 95% CI 1.2-5.0). Phenotypic characterization includes family and medical history, anthropometry (height, weight, waist, hip, fat mass), 75 gram oral glucose tolerance test, hemoglobin A1c, and lipids. During the current reporting period, 1640 insulins and 1036 leptins were analyzed to further characterize phenotypically these known serum markers of glucose metabolism. Several different types of parametric and nonparametric analyses including affected sib pairs and pedigree member pair analysis are in process. CORE LABORATORY ONLY; NO INPATIENT DAYS OR OUTPATIENT VISITS.

宾夕法尼亚州兰开斯特县的旧教派阿米什人最初有数百人，现在人口超过200人。这个群体是一个定义明确、基因同质的高加索人群体，具有非常大的兄弟姐妹关系、高度的血缘关系和良好的家谱记录。这项研究的目的是招募患有非胰岛素依赖型糖尿病(NIDDM)的大型多发性家系并对其表型进行表型分析，以便在全基因组范围内寻找这种异质性和多基因疾病的易感基因。到目前为止，已经对1000多个对象进行了研究。这些个体来自80个两代和三代家庭，构成一个扩大的家系和2000多对同胞。在首次连续招募的258名受试者中，如果他们有糖尿病的一级亲属，16.2%患有糖尿病，而如果没有一级糖尿病亲属，只有6.5%(RR 2.5；p&lt；/-0.01，95%CI 1.2-5.0)。表型特征包括家族和病史、人体测量(身高、体重、腰围、臀部、脂肪质量)、75克口服葡萄糖耐量试验、血红蛋白A1c和血脂。在本报告所述期间，对1640名胰岛素和1036名瘦素进行了分析，以进一步确定这些已知的糖代谢血清标志物的表型。正在进行几种不同类型的参数和非参数分析，包括受影响的同胞对和系谱成员对分析。仅限核心实验室；没有住院日或门诊就诊。