血压与普通人群中的人类遗传变异。
Blood pressure and human genetic variation in the general population.
机构信息
Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
出版信息
Curr Opin Cardiol. 2010 May;25(3):229-37. doi: 10.1097/HCO.0b013e3283383e2c.
Abstract
PURPOSE OF REVIEW
Hypertension is a complex trait with multiple environmental and genetic contributors. Until recently, linkage studies of rare Mendelian disorders of hypertension and hypotension have produced the most notable progress toward understanding the heritable basis of blood pressure (BP). Association studies to identify common variants have been limited in the past by small sample sizes and most findings have lacked replication.
RECENT FINDINGS
Recently, well powered, targeted candidate gene and genome-wide association studies have reported reproducible associations between rare and common genetic variants and BP and hypertension at the population level.
SUMMARY
Identification of novel genes will lead to an improved understanding of BP regulation and the potential for novel therapies.
摘要
目的综述
高血压是一种具有多种环境和遗传因素的复杂特征。直到最近，对罕见的孟德尔高血压和低血压疾病的连锁研究在理解血压（BP）的遗传基础方面取得了最显著的进展。过去，由于样本量小，常见变异的关联研究受到限制，而且大多数发现都缺乏复制。
最近，功能强大的靶向候选基因和全基因组关联研究报告了在人群水平上稀有和常见遗传变异与 BP 和高血压之间存在可重复的关联。
总结
鉴定新基因将有助于更好地了解 BP 调节以及潜在的新疗法。
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