Henneman P, Aulchenko Y S, Frants R R, van Dijk K W, Oostra B A, van Duijn C M
Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
J Med Genet. 2008 Sep;45(9):572-7. doi: 10.1136/jmg.2008.058388. Epub 2008 Jun 11.
Metabolic syndrome (MetS) is defined by a combination of abnormalities that are all individual risk factors for the development of type 2 diabetes and/or cardiovascular disease. The aetiology of MetS includes both an environmental and genetic component. We studied the prevalence and heritability of MetS and its individual components Dutch genetic isolate.
The Erasmus Rucphen Family study (ERF) consists of some 3000 genealogically documented individuals from a Dutch genetic isolate. Data on waist circumference (WC), blood pressure (BP), high density lipoprotein cholesterol (HDL-C), triglycerides (TG) and fasting plasma glucose values (FPG) are available. MetS was defined according to the International Diabetes Federation (IDF) (2003) and National Cholesterol Education program Adult Panel III (NCEP ATPIII) criteria. Variance component analysis was applied to extended family data to test for evidence of heritability.
The prevalence of MetS in the ERF cohort ranged from 23-37% depending on MetS definition and gender considered. Low HDL-C and high WC are the main contributors to MetS. The heritability of MetS corrected for sibship effect was 10.6% (p = 0.01) according to IDF and 13.2% (p = 0.07) according to NCEP ATPIII criteria. In addition, the heritability of individual components of MetS were analysed and found to range from 21.9-42.9%. The highest heritability was found for HDL-C (42.9%, p<0.0001) and WC (37.8%, p<0.0001). In addition, WC, systolic BP, HDL-C and TG showed low to moderate genetic correlation (RhoG) between genders, whereas FPG and diastolic BP showed absolute genetic correlation between genders.
Although the prevalence of MetS was high, the heritability of MetS in the ERF population was found to be moderate. The high heritability of the individual components of MetS indicates that the genetic dissection of MetS should be approached from its individual components.
代谢综合征（MetS）由多种异常情况组合而成，这些异常均为2型糖尿病和/或心血管疾病发生的个体风险因素。MetS的病因包括环境和遗传因素。我们研究了荷兰遗传隔离人群中MetS及其各个组成部分的患病率和遗传度。
伊拉斯谟鲁芬家族研究（ERF）由来自荷兰遗传隔离人群的约3000名有谱系记录的个体组成。可获取腰围（WC）、血压（BP）、高密度脂蛋白胆固醇（HDL-C）、甘油三酯（TG）和空腹血糖值（FPG）的数据。根据国际糖尿病联盟（IDF）（2003年）和美国国家胆固醇教育计划成人治疗组第三次报告（NCEP ATPIII）标准定义MetS。将方差成分分析应用于扩展家系数据以检验遗传度证据。
根据所考虑的MetS定义和性别，ERF队列中MetS的患病率在23%至37%之间。低HDL-C和高WC是MetS的主要促成因素。根据IDF标准，校正同胞关系效应后的MetS遗传度为10.6%（p = 0.01），根据NCEP ATPIII标准为13.2%（p = 0.07）。此外，对MetS各个组成部分的遗传度进行了分析，发现其范围在21.9%至42.9%之间。HDL-C（42.9%，p<0.0001）和WC（37.8%，p<0.0001）的遗传度最高。此外，WC、收缩压、HDL-C和TG在性别之间显示出低至中等的遗传相关性（RhoG），而FPG和舒张压在性别之间显示出绝对遗传相关性。
尽管MetS的患病率很高，但在ERF人群中发现MetS的遗传度为中等。MetS各个组成部分的高遗传度表明，应从其各个组成部分对MetS进行基因剖析。
