Bellia A, Giardina E, Lauro D, Tesauro M, Di Fede G, Cusumano G, Federici M, Rini G B, Novelli G, Lauro R, Sbraccia P
Department of Internal Medicine, University of Rome Tor Vergata, I-00133 Rome, Italy.
Nutr Metab Cardiovasc Dis. 2009 Sep;19(7):455-61. doi: 10.1016/j.numecd.2008.11.002. Epub 2009 Feb 6.
Growing evidence suggests that the metabolic syndrome (MetS) has both a genetic and environmental basis. To evaluate the possibility of a further genetic analysis, we estimated prevalence rates and heritabilities for the MetS and its individual traits in the adult population of Linosa, a small and isolated Italian Island in the southern-central part of the Mediterranean Sea.
The Linosa Study (LiS) group consisted of 293 Caucasian native subjects from 51 families (123 parents; 170 offsprings). The MetS was defined according to NCEP/ATP III criteria and the following prevalence rates were calculated: hyperglycaemia 20.3%; central obesity 34.9%; hypertension 43.4%; hypertriglyceridaemia 29.9%; "low HDL" 56.6%; MetS 29.9%. Waist circumference was significantly related to all the quantitative parameters included in the NCEP/ATP III MetS definition. The MetS showed a heritability of 27% (p=0.0012) and among its individual components, treated as continuous and discrete traits, heritability ranged from 10% for blood glucose to 54% for HDL-cholesterol. Among MetS subtypes, the clustering of central obesity, hypertriglyceridaemia and "Iow HDL" had the highest heritability (31%; p<0.001).
These data showed high prevalence rates for the MetS and its related traits in an isolated and small Caucasian population. The appreciable heritability estimates for the MetS and some of its components/clusters in the LiS population might support the observation of genetic factors underlying the pathogenesis of the MetS and encourage further analysis to identify new susceptibility genes.
越来越多的证据表明，代谢综合征（MetS）具有遗传和环境基础。为评估进一步进行基因分析的可能性，我们在利诺萨岛（位于地中海中南部的一个小型孤立意大利岛屿）的成年人群中，估算了代谢综合征及其个体特征的患病率和遗传力。
利诺萨研究（LiS）组由来自51个家庭的293名白种本地受试者组成（123名父母；170名后代）。根据美国国家胆固醇教育计划成人治疗组第三次报告（NCEP/ATP III）标准定义代谢综合征，并计算出以下患病率：高血糖20.3%；中心性肥胖34.9%；高血压43.4%；高甘油三酯血症29.9%；“低高密度脂蛋白”56.6%；代谢综合征29.9%。腰围与NCEP/ATP III代谢综合征定义中包含的所有定量参数均显著相关。代谢综合征的遗传力为27%（p = 0.0012），在其各个组成部分（视为连续和离散性状）中，遗传力范围从血糖的10%到高密度脂蛋白胆固醇的54%。在代谢综合征亚型中，中心性肥胖、高甘油三酯血症和“低高密度脂蛋白”的聚集具有最高的遗传力（31%；p < 0.001）。
这些数据表明，在一个孤立的小型白种人群中，代谢综合征及其相关特征的患病率很高。利诺萨研究人群中代谢综合征及其一些组成部分/聚集的可观遗传力估计值，可能支持代谢综合征发病机制中存在遗传因素的观点，并鼓励进一步分析以确定新的易感基因。
