动脉壁功能与结构的遗传力:伊拉斯姆斯鲁芬家族(ERF)研究的结果

Heritability of the function and structure of the arterial wall: findings of the Erasmus Rucphen Family (ERF) study.

作者信息

Sayed-Tabatabaei F A, van Rijn M J E, Schut A F C, Aulchenko Y S, Croes E A, Zillikens M C, Pols H A P, Witteman J C M, Oostra B A, van Duijn C M

机构信息

Department of Epidemiology & Biostatistics, Erasmus Medical Centre, Postbus 1738, 3000 DR Rotterdam, The Netherlands.

出版信息

Stroke. 2005 Nov;36(11):2351-6. doi: 10.1161/01.STR.0000185719.66735.dd. Epub 2005 Oct 20.

Abstract

BACKGROUND AND PURPOSE

Using 930 individuals connected in a single pedigree from an isolated population, participants of the Erasmus Rucphen Family (ERF) study, we investigated the heritability of carotid-femoral pulse wave velocity (PWV), carotid intima media thickness (IMT), and carotid plaque score.

METHODS

PWV was measured between the carotid and femoral arteries as an indicator of aortic stiffness. Common carotid IMT and plaque score, quantifying alterations in arterial wall structure, were measured by ultrasonography.

RESULTS

All 3 traits were significantly associated with classic cardiovascular risk factors. Age- and gender-adjusted heritability estimates were 0.36 for PWV, 0.41 for carotid IMT, and 0.28 for plaque score. After adjustment for appropriate risk factors, the heritabilities were 0.26, 0.35, and 0.21 for PWV, IMT, and plaque score, respectively. All heritability estimates were statistically significant (P<0.001). Taking into account different proportions of variance associated with covariates for each trait, genetic factors explained &12% of the total variability for each of the phenotypes.

CONCLUSIONS

To our knowledge, this is the first report on the heritability of PWV. The heritability estimates of IMT and plaque score were similar to those in previous reports. We conclude that genetic factors significantly contribute to arterial structure and function in this isolated population, presenting the opportunity to locate susceptibility genes related to cardiovascular disorders.

摘要

背景与目的

我们利用来自一个隔离人群的单个家系中相连的930名个体,即伊拉斯姆斯鲁芬家族(ERF)研究的参与者,调查了颈股脉搏波速度(PWV)、颈动脉内膜中层厚度(IMT)和颈动脉斑块评分的遗传性。

方法

测量颈动脉和股动脉之间的PWV作为主动脉僵硬度的指标。通过超声检查测量颈总动脉IMT和斑块评分,以量化动脉壁结构的改变。

结果

所有这3个特征均与经典心血管危险因素显著相关。年龄和性别调整后的遗传性估计值为:PWV为0.36,颈动脉IMT为0.41,斑块评分为0.28。在对适当的危险因素进行调整后,PWV、IMT和斑块评分的遗传性分别为0.26、0.35和0.21。所有遗传性估计值均具有统计学意义(P<0.001)。考虑到与每个特征的协变量相关的不同方差比例,遗传因素解释了每个表型总变异性的约12%。

结论

据我们所知,这是关于PWV遗传性的首次报告。IMT和斑块评分的遗传性估计值与先前报告中的相似。我们得出结论,在这个隔离人群中,遗传因素对动脉结构和功能有显著贡献,为定位与心血管疾病相关的易感基因提供了机会。

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