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慢性静脉疾病的遗传性。

Heritability of chronic venous disease.

机构信息

Institute for Clinical Molecular Biology, Christian-Albrechts-University, Schittenhelmstr. 12, 24105 Kiel, Germany.

出版信息

Hum Genet. 2010 Jun;127(6):669-74. doi: 10.1007/s00439-010-0812-9. Epub 2010 Mar 31.

Abstract

Varicose veins without skin changes have a prevalence of approximately 20% in Northern and Western Europe whereas advanced chronic venous insufficiency affects about 3% of the population. Genetic risk factors are thought to play an important role in the aetiology of both these chronic venous diseases (CVD). We evaluated the relative genetic and environmental impact upon CVD risk by estimating the heritability of the disease in 4,033 nuclear families, comprising 16,434 individuals from all over Germany. Upon clinical examination, patients were classified according to the CEAP guidelines as either C2 (simple varicose veins), C3 (oedema), C4 (skin changes without ulceration), C5 (healed ulceration), or C6 (active ulcers). The narrow-sense heritability (h2) of CVD equals 17.3% (standard error 2.5%, likelihood ratio test P = 1.4 x 10(-13)). The proportion of disease risk attributable to age (at ascertainment) and sex, the two main risk factors for CVD, was estimated as 10.7% (Kullback-Leibler deviance R2). The heritability of CVD is high, thereby suggesting a notable genetic component in the aetiology of the disease. Systematic population-based searches for CVD susceptibility genes are therefore warranted.

摘要

在北欧和西欧,没有皮肤改变的静脉曲张的患病率约为 20%,而晚期慢性静脉功能不全影响约 3%的人口。遗传危险因素被认为在这两种慢性静脉疾病(CVD)的发病机制中起着重要作用。我们通过估计来自德国各地的 4033 个核家庭(共 16434 人)中疾病的遗传率,来评估 CVD 风险的相对遗传和环境影响。在临床检查中,根据 CEAP 指南将患者分为 C2(单纯静脉曲张)、C3(水肿)、C4(无溃疡的皮肤改变)、C5(愈合的溃疡)或 C6(活动溃疡)。CVD 的狭义遗传率(h2)为 17.3%(标准误差 2.5%,似然比检验 P = 1.4 x 10(-13))。CVD 的两个主要危险因素(发病时的年龄和性别)归因于疾病风险的比例估计为 10.7%(Kullback-Leibler 偏差 R2)。CVD 的遗传率很高,这表明该疾病的发病机制中有明显的遗传成分。因此,有必要对 CVD 的易感基因进行系统的基于人群的搜索。

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