Molecular genetics of human blood pressure variation
Molecular genetics of human blood pressure variation
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DOI：
10.1126/science.272.5262.676
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发表时间：
1996-05-03
期刊：
影响因子：
56.9
通讯作者：
Lifton, RP
中科院分区：
文献类型：
--
作者：
Lifton, RP
高血压是一种常见的多因素血管疾病，大部分原因不明。认识到高血压在一定程度上是由遗传决定的，这促使研究确定赋予易感性的突变。到目前为止，至少有10个基因的突变被证明可以改变血压；其中大多数是罕见的突变，会产生大量的影响，要么升高，要么降低血压。这些突变通过一个共同的途径改变血压，改变肾脏中盐和水的再吸收。这些发现证明了分子遗传学方法对理解血压变化的效用，并可能为了解常见形式高血压的生理机制提供见解。
Hypertension is a common multifactorial vascular disorder of largely unknown cause. Recognition that hypertension is in part genetically determined has motivated studies to identify mutations that confer susceptibility. Thus far, mutations in at least 10 genes have been shown to alter blood pressure; most of these are rare mutations imparting large quantitative effects that either raise or lower blood pressure. These mutations alter blood pressure through a common pathway, changing salt and water reabsorption in the kidney. These findings demonstrate the utility of molecular genetic approaches to the understanding of blood pressure variation and may provide insight into the physiologic mechanisms underlying common forms of hypertension.