Bosy-Westphal A, Onur S, Geisler C, Wolf A, Korth O, Pfeuffer M, Schrezenmeir J, Krawczak M, Müller M J
Institut für Humanernährung und Lebensmittelkunde, Christian-Albrechts-Universität, Kiel, Germany.
Int J Obes (Lond). 2007 May;31(5):784-90. doi: 10.1038/sj.ijo.0803481. Epub 2006 Oct 17.
The phenotypic heterogeneity of metabolic syndrome (MSX) suggests heterogeneity of the underlying genotype. The aim of the present study was to examine the common genetic background that contributes to the clustering between the two main features (insulin resistance, central obesity) and different MSX component traits.
In all, 492 individuals from 90 families were investigated in a three-generation family path study as part of the Kiel Obesity Prevention Study (KOPS, 162 grandparents, 66.1+/-6.7 years, 173 parents, 41.3+/-5.4 years and 157 children, 10.8+/-3.4 years). Overall heritability was estimated and common familial (genetic and environmental) influences on insulin resistance (HOMA-IR) or central obesity (elevated waist circumference, WC), respectively, and different MSX traits were compared in a bivariate cross-trait correlation model.
Prevalence of MSX (according to NCEP criteria) was 27.2% (f) and 27.8% (m) in adults and 3.5% (f) and 8.5% (m) in children and adolescents, respectively. MSX phenotype was found to be highly variable, comprising 16 subtypes of component trait combinations. Within-trait heritability was 38.5% for HOMA-IR and 53.5% for WC, cross-trait heritability was 53.4%. As much as 6-18% and 3-10% of the shared variance between different MSX component traits (lipid profile, blood pressure) and WC or HOMA-IR, respectively, may be genetic. With the exception of HDL-C, the shared genetic variance between MSX component traits and WC was higher than the genetic variance shared with HOMA-IR.
A common genetic background contributes to the clustering of different MSX component traits and central obesity or insulin resistance. Common genetic influences favour central obesity as a major characteristic linking these traits.
代谢综合征（MSX）的表型异质性提示其潜在基因型存在异质性。本研究旨在探讨导致两个主要特征（胰岛素抵抗、中心性肥胖）与不同MSX组成性状之间聚类的共同遗传背景。
作为基尔肥胖预防研究（KOPS，162名祖父母，66.1±6.7岁，173名父母，41.3±5.4岁，157名儿童，10.8±3.4岁）的一部分，在一项三代家庭路径研究中对来自90个家庭的492名个体进行了调查。估计总体遗传力，并在双变量跨性状相关模型中比较共同家族（遗传和环境）对胰岛素抵抗（HOMA-IR）或中心性肥胖（腰围升高，WC）以及不同MSX性状的影响。
根据美国国家胆固醇教育计划（NCEP）标准，成人中MSX的患病率分别为27.2%（女性）和27.8%（男性），儿童和青少年中分别为3.5%（女性）和8.5%（男性）。发现MSX表型高度可变，包括16种组成性状组合的亚型。HOMA-IR的性状内遗传力为38.5%，WC为53.5%，跨性状遗传力为53.4%。不同MSX组成性状（血脂谱、血压）与WC或HOMA-IR之间分别有6-18%和3-10%的共享方差可能是遗传的。除高密度脂蛋白胆固醇（HDL-C）外，MSX组成性状与WC之间的共享遗传方差高于与HOMA-IR共享的遗传方差。
共同的遗传背景导致不同MSX组成性状与中心性肥胖或胰岛素抵抗的聚类。共同的遗传影响有利于将中心性肥胖作为连接这些性状的主要特征。
