Mathias Rasika A, Deepa Mohan, Deepa Raj, Wilson Alexander F, Mohan Vishwanathan
Genometrics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA.
Metabolism. 2009 Oct;58(10):1439-45. doi: 10.1016/j.metabol.2009.04.041. Epub 2009 Jul 1.
India is a major contributor to the global public health burden of diabetes. We have undertaken a family study of large multiplex families from Chennai, South India, and report on the familial aggregation of quantitative traits associated with type 2 diabetes mellitus in these pedigrees. Five hundred twenty-four individuals older than 19 years from 26 large multiplex pedigrees were ascertained. Detailed questionnaires and phenotype data were obtained on all participating individuals including fasting blood glucose, fasting insulin, lipid profiles, height, weight, and other anthropometric and clinical measures. Heritability estimates were calculated for all quantitative traits at the univariate level, and bivariate analyses were done to determine the correlation in genetic and environmental control across these quantitative traits. Heritability estimates ranged from 0.21 to 0.72. The heritability estimates for traits most directly related to type 2 diabetes mellitus were 0.24 +/- 0.08 for fasting blood glucose and 0.41 +/- 0.09 for fasting insulin. In addition, there was evidence for common genetic control for many pairs of these traits. These bivariate analyses suggested common genes for fasting insulin and central obesity measures (body mass index, waist, and hip), with complete genetic correlation between fasting insulin and waist. Quantitative traits associated with type 2 diabetes mellitus have heritabilities suggestive of some familial or genetic effect. The evidence for pleiotropic control of insulin and central obesity-related traits supports the presence of an insulin resistance syndrome in South Asians with a tendency for central obesity.
印度是全球糖尿病公共卫生负担的主要贡献者。我们对来自印度南部金奈的多个大家庭进行了一项家族研究，并报告了这些家系中与2型糖尿病相关的数量性状的家族聚集情况。确定了来自26个大型多重家系的524名19岁以上的个体。获取了所有参与个体的详细问卷和表型数据，包括空腹血糖、空腹胰岛素、血脂谱、身高、体重以及其他人体测量和临床指标。在单变量水平上计算了所有数量性状的遗传力估计值，并进行了双变量分析以确定这些数量性状在遗传和环境控制方面的相关性。遗传力估计值范围为0.21至0.72。与2型糖尿病最直接相关的性状的遗传力估计值，空腹血糖为0.24±0.08，空腹胰岛素为0.41±0.09。此外，有证据表明这些性状中的许多对存在共同的遗传控制。这些双变量分析表明空腹胰岛素与中心性肥胖指标（体重指数、腰围和臀围）存在共同基因，空腹胰岛素与腰围之间存在完全遗传相关性。与2型糖尿病相关的数量性状具有提示某些家族或遗传效应的遗传力。胰岛素与中心性肥胖相关性状的多效性控制证据支持在有中心性肥胖倾向的南亚人中存在胰岛素抵抗综合征。
