{beta}-Adrenoceptor gene variation and intermediate physiological traits: prediction of distant phenotype.
{beta}-Adrenoceptor gene variation and intermediate physiological traits: prediction of distant phenotype.
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DOI：
10.1113/expphysiol.2009.048330
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发表时间：
2010-07
影响因子：
2.7
通讯作者：
Wittwer ED
中科院分区：
文献类型：
--
作者：
Eisenach JH;Wittwer ED
中间生理表型是对功能生理特征的遗传和环境影响，与遥远的、更复杂的表型如心血管和代谢疾病具有直接预后相关性。越来越多的可用和负担得起的基因分型技术创造了一个爆炸的信息候选基因变异及其关系的中间生理性状。β-肾上腺素受体基因的变异是研究的重点，因为β-肾上腺素受体1）在器官系统分布中普遍存在; 2）与许多生理过程不可或缺; 3）在心血管和代谢疾病中有充分描述;以及4）主要的药理学治疗靶点。此外，在这些受体的功能基因变异的知识早于人类基因组的描述。这篇综述强调了三种β-肾上腺素受体亚型的共同基因变异对预测心血管疾病和肥胖的中间生理表型的影响。虽然需要进一步的信息来复制这些信息在人群中，这篇综述浓缩和总结了β-肾上腺素受体多态性的特异性多效性效应的增长趋势，并表明哪些变体可能是预测遥远的表型。
Intermediate physiological phenotype is the genetic and environmental influence on functional physiological characteristics with direct prognostic relevance to distant, more complex phenotypes such as cardiovascular and metabolic disease. Increasingly available and affordable genotyping techniques have created an explosion of information on candidate gene variation and its relationship to intermediate physiological traits. Variation in beta-adrenoceptor genes is an intense focus of investigation because beta-adrenoceptors are 1) ubiquitous in organ system distribution; 2) integral to a multitude of physiological processes; 3) well-described in cardiovascular and metabolic disease; and 4) major pharmacologic treatment targets. Furthermore, knowledge of functional gene variants in these receptors predates the description of the human genome. This review highlights the influence of common gene variation in the three beta-adrenoceptor subtypes on intermediate physiologic phenotype predictive of cardiovascular disease and obesity. Although further information is needed to replicate this information across populations, this review condenses and summarizes growing trends in specific pleiotropic effects of beta-adrenoceptor polymorphisms, and suggests which variants may be predictive of distant phenotype.
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影响因子：
3.3
作者：
Eisenach, JH;Clark, ES;Joyner, MJ
通讯作者：
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影响因子：
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DOI：
10.1164/rccm.200509-1405oc
发表时间：
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影响因子：
24.7
作者：
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通讯作者：
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影响因子：
8.3
作者：
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