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扩展双生子设计中白昼动态血压的遗传度

Heritability of daytime ambulatory blood pressure in an extended twin design.

作者信息

Kupper Nina, Willemsen Gonneke, Riese Harriëtte, Posthuma Daniëlle, Boomsma Dorret I, de Geus Eco J C

机构信息

Department of Biological Psychology, Vrije Universiteit, van der Boechorststraat 1, 1081 BT, Amsterdam, The Netherlands.

出版信息

Hypertension. 2005 Jan;45(1):80-5. doi: 10.1161/01.HYP.0000149952.84391.54. Epub 2004 Nov 22.

Abstract

The present study estimated the genetic influences on ambulatory systolic and diastolic blood pressure, and on hypertensive status derived from ambulatory levels, in a family sample of 535 twins and 257 singleton siblings. This "extended twin design" was used to explicitly test the possibility that results obtained in singleton siblings are different from those obtained in twins. To examine the effects of excluding (medicated) hypertensive subjects, the genetic analyses were first performed under strict exclusion (medication and/or blood pressure >135/85 mm Hg), then without the medicated subjects, and, finally, without any exclusion. For the latter analysis, the untreated blood pressure values in subjects using antihypertensive medication were estimated by augmenting the observed blood pressure by the published efficacy of the specific antihypertensive medication used. No evidence was found for differential means, variances, or covariances of ambulatory blood pressure in singletons compared with twins. This indicates that estimates of heritability of ambulatory blood pressure from twin studies can be generalized to the singleton population. Heritability of hypertension, defined as a mean daytime blood pressure >135/85 mm Hg or antihypertensive medication use, was 61%. Genetic contribution to ambulatory blood pressure was highest when all subjects were included (systolic, 44% to 57%; diastolic, 46% to 63%) and lowest under strict exclusion (systolic, 32% to 50%; diastolic, 31% to 55%). We conclude that exclusion of (medicated) hypertensives removes part of the true genetic variance in ambulatory blood pressure.

摘要

本研究在一个包含535对双胞胎和257名单胎兄弟姐妹的家庭样本中,估计了遗传因素对动态收缩压和舒张压以及基于动态血压水平的高血压状态的影响。这种“扩展双胞胎设计”被用于明确检验单胎兄弟姐妹中获得的结果与双胞胎中获得的结果是否不同的可能性。为了研究排除(正在服药的)高血压患者的影响,首先在严格排除(正在服药和/或血压>135/85 mmHg)的情况下进行遗传分析,然后排除正在服药的患者,最后不进行任何排除。对于后一种分析,使用特定抗高血压药物的已公布疗效来增加观察到的血压,从而估计使用抗高血压药物的受试者的未治疗血压值。未发现单胎与双胞胎在动态血压的均值、方差或协方差方面存在差异的证据。这表明来自双胞胎研究的动态血压遗传率估计可以推广到单胎人群。高血压的遗传率定义为日间平均血压>135/85 mmHg或使用抗高血压药物,为61%。当纳入所有受试者时,遗传因素对动态血压的贡献最高(收缩压为44%至57%;舒张压为46%至63%),在严格排除的情况下最低(收缩压为32%至50%;舒张压为31%至55%)。我们得出结论,排除(正在服药的)高血压患者会去除动态血压中部分真正的遗传方差。

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