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高血压和心血管疾病的遗传学及其相互关联的途径:来自大型研究的经验教训。

Genetics of hypertension and cardiovascular disease and their interconnected pathways: lessons from large studies.

机构信息

Division of Statistical Genomics, Washington University School of Medicine, 4444 Forest Park Avenue, St. Louis, MO 63108, USA.

出版信息

Curr Hypertens Rep. 2011 Feb;13(1):46-54. doi: 10.1007/s11906-010-0174-7.

Abstract

Blood pressure (BP), hypertension (HT) and cardiovascular disease (CVD) are common complex phenotypes, which are affected by multiple genetic and environmental factors. This article describes recent genome-wide association studies (GWAS) that have reported causative variants for BP/HT and CVD/heart traits and analyzes the overlapping associated gene polymorphisms. It also examines potential replication of findings from the HyperGEN data on African Americans and whites. Several genes involved in BP/HT regulation also appear to be involved in CVD. A better picture is emerging, with overlapping hot-spot regions and with interconnected pathways between BP/HT and CVD. A systemic approach to full understanding of BP/HT and CVD development and their progression to disease may lead to the identification of gene targets and pathways for the development of novel therapeutic interventions.

摘要

血压(BP)、高血压(HT)和心血管疾病(CVD)是常见的复杂表型,受多种遗传和环境因素的影响。本文描述了最近报道的与 BP/HT 和 CVD/心脏特征相关的全基因组关联研究(GWAS),并分析了重叠的相关基因多态性。还检查了 HyperGEN 数据在非裔美国人和白人中发现的潜在复制情况。一些参与 BP/HT 调节的基因似乎也与 CVD 有关。更清晰的画面正在浮现,BP/HT 和 CVD 之间存在重叠的热点区域和相互关联的通路。对 BP/HT 和 CVD 发展及其向疾病进展的全面理解的系统方法可能会导致基因靶点和新的治疗干预途径的确定。

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