Lifton R P
Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06510, USA.
Science. 1996 May 3;272(5262):676-80. doi: 10.1126/science.272.5262.676.
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.
高血压是一种常见的多因素血管疾病，其病因大多不明。认识到高血压部分由基因决定，促使人们开展研究以识别赋予易感性的突变。到目前为止，至少10个基因中的突变已被证明会改变血压；其中大多数是罕见突变，具有大幅升高或降低血压的定量效应。这些突变通过一条共同途径改变血压，影响肾脏对盐和水的重吸收。这些发现证明了分子遗传学方法在理解血压变异方面的实用性，并可能为常见形式高血压的生理机制提供见解。
