Austin Melissa A, Edwards Karen L, McNeely Marguerite J, Chandler Wayne L, Leonetti Donna L, Talmud Philippa J, Humphries Steve E, Fujimoto Wilfred Y
Department of Epidemiology and Institute for Public Health Genetics, School of Public Health and Community Medicine, University of Washington, Seattle, 98195-7236, USA.
Diabetes. 2004 Apr;53(4):1166-9. doi: 10.2337/diabetes.53.4.1166.
A rapidly growing body of evidence demonstrates important associations between the metabolic syndrome, characterized by a cluster of risk factors or phenotypes that include dyslipidemia, central obesity, hypertension, and hyperinsulinemia, and both cardiovascular disease and type 2 diabetes. The purpose of the present study was to characterize the metabolic syndrome in a sample of 432 individuals from 68 Japanese-American families, using factor analysis of quantitative phenotypes, and to estimate the heritability of these independent factors. Using nine characteristic phenotypes that included LDL particle size and C-reactive protein (CRP), factor analysis identified three multivariate factors interpreted as lipids, body fat/insulin/glucose/CRP, and blood pressure, explaining 65% of the variance. Heritability analysis revealed significant genetic effects on all of the factors: lipids (h(2) = 0.52, P < 0.001), body fat/insulin/glucose/CRP (h(2) = 0.27, P = 0.016), and blood pressure (h(2) = 0.25, P = 0.026). This analysis shows that independent, multivariate factors of the metabolic syndrome are heritable, demonstrating genetic influences on the underlying pathophysiological mechanisms of the syndrome.
越来越多的证据表明,以血脂异常、中心性肥胖、高血压和高胰岛素血症等一组危险因素或表型为特征的代谢综合征,与心血管疾病和2型糖尿病均存在重要关联。本研究的目的是通过对定量表型进行因子分析,对来自68个日裔美国家庭的432名个体样本中的代谢综合征进行特征描述,并估计这些独立因子的遗传度。通过使用包括低密度脂蛋白颗粒大小和C反应蛋白(CRP)在内的9种特征表型,因子分析确定了三个多变量因子,分别解释为脂质、体脂/胰岛素/葡萄糖/CRP和血压,解释了65%的变异。遗传度分析显示,所有因子均存在显著的遗传效应:脂质(h(2) = 0.52,P < 0.001)、体脂/胰岛素/葡萄糖/CRP(h(2) = 0.27,P = 0.016)和血压(h(2) = 0.25,P = 0.026)。该分析表明,代谢综合征的独立多变量因子具有遗传性,证明了遗传因素对该综合征潜在病理生理机制的影响。