Carmelli D, Cardon L R, Fabsitz R
Health Sciences Program, SRI International, Menlo Park, CA 94025.
Am J Hum Genet. 1994 Sep;55(3):566-73.
We investigated the mediating role of genetic factors in the clustering of hypertension, diabetes, and obesity, using the twin registry maintained by the National Academy of Sciences--National Research Council. The study sample included 2,508 male twin pairs born between 1917 and 1927 who responded to a mailed questionnaire that covered demographic variables, cardiovascular risk factors, and health behaviors. The incidence of hypertension and diabetes in this cohort was ascertained from subjects' self-report of a physician diagnosis and/or the use of prescription medications. The body-mass index calculated from self-reports of height and weight was used as a measure of obesity. Descriptive analyses indicated probandwise concordance rates of 34.0%, 31.2%, and 32.7%, respectively, for the joint occurrences of hypertension and diabetes, hypertension and obesity, and diabetes and obesity in MZ twin pairs. Corresponding concordance rates in DZ twin pairs were 8.1%, 14.9%, and 2.8%. The probandwise concordance for the clustering of all three conditions in the same individuals was 31.6% in MZ pairs and 6.3% in DZ pairs (relative risk 5.0; X2(1) = 2.6; P < .15). Multivariate genetic modeling of the correlation in liabilities to develop these conditions suggested the presence of a common latent factor mediating the clustering of hypertension, diabetes, and obesity in this twin sample. This common factor was influenced by both genetic and environmental effects (59% 8 genetic, 41% environmental). The genetic influences on the common latent factor were due to dominant rather than additive sources; the environmental influences appeared to be specific rather than shared by co-twins.
我们利用美国国家科学院-国家研究委员会维护的双胞胎登记册,研究了遗传因素在高血压、糖尿病和肥胖症聚集现象中的中介作用。研究样本包括2508对出生于1917年至1927年之间的男性双胞胎,他们回复了一份邮寄问卷,问卷涵盖人口统计学变量、心血管危险因素和健康行为。该队列中高血压和糖尿病的发病率通过受试者对医生诊断和/或使用处方药的自我报告来确定。根据身高和体重的自我报告计算出的体重指数被用作肥胖的衡量指标。描述性分析表明,同卵双胞胎中高血压和糖尿病、高血压和肥胖症、糖尿病和肥胖症同时出现的先证者一致率分别为34.0%、31.2%和32.7%。异卵双胞胎的相应一致率分别为8.1%、14.9%和2.8%。同卵双胞胎中所有三种情况在同一个体中聚集的先证者一致率为31.6%,异卵双胞胎为6.3%(相对风险5.0;X2(1)=2.6;P<.15)。对发生这些情况的易感性相关性进行多变量遗传建模表明,在这个双胞胎样本中存在一个共同的潜在因素介导高血压、糖尿病和肥胖症的聚集。这个共同因素受到遗传和环境因素的影响(59%为遗传因素,41%为环境因素)。对共同潜在因素的遗传影响归因于显性而非加性来源;环境影响似乎是特定的,而非双胞胎共同具有的。