Genomics of pulmonary arterial hypertension: implications for therapy.
Genomics of pulmonary arterial hypertension: implications for therapy.
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DOI：
10.1016/j.hfc.2009.08.001
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发表时间：
2010-01
影响因子：
3.4
通讯作者：
Tuder RM
中科院分区：
文献类型：
--
作者：
Geraci MW;Bull TM;Tuder RM
肺动脉高压仍然是一个棘手的临床疾病，无法治愈。尽管取得了进展，并发现了与许多遗传性疾病相关的基因（BMPR2），以及一些以前不知道是遗传性的病例，但该基因突变的原因仍然有些难以捉摸。显然，基因改变、环境暴露（包括感染）和疾病发展之间存在着复杂的相互作用。本文介绍了PAH遗传学方面的进展，包括遗传病因学和调节剂的鉴定，以及遗传学在预测疾病进展和靶向治疗中的作用。
Pulmonary arterial hypertension remains a vexing clinical disease with no cure. Despite advances and the discovery of a gene (BMPR2) associated with many of the hereditary forms of the disease, and some cases not previously known to be inherited, the reasons for mutations in this gene as a cause remain somewhat elusive. Clearly, a complex interplay exists between genetic alterations, environmental exposures (including infections) and disease development. This article addresses the advances in the genetics of PAH, including the identification of genetic etiologies and modulators, and the role of genetics in predicting disease progression and targeting therapeutics.