Chasing Pulmonary Hypertension

Advances in Pulmonary Hypertension

关键词: WHO Group 1- Pulmonary Arterial Hypertension;    Gender;    PH;    nutrition;    Idiopathic (Primary pulmonary hypertension);    Heritable (Familial pulmonary hypertension);    Genetics;    Genetic Testing;    BMPR2;    nitric oxide;    endothelial dysfunction;    Testosterone;    biomarkers;    Classification;    Epidemiology;   

DOI  :  

学科分类：医学（综合）

来源: Pulmonary Hypertension Association

【 摘 要 】

After years of effort, investigators at Vanderbilt and Columbia found the gene for heritable pulmonary hypertension (PH) nearly simultaneously in the year 2000.1,2 Mutations in the so-called bone morphogenetic protein receptor type 2 (BMPR2) are now known to be responsible for about 75% of cases of heritable pulmonary arterial hypertension (PAH).3 In the other 25% of families, either the mutation remains unknown, or it is in the ALK-1 or endoglin genes, SMAD 8 or caveolin 1.4 Undoubtedly, other rarer mutations that cause disease will be found. In most registries, known heritable PAH accounts for about 6% of the population enrolled, so 6 out of every 100 cases.5,6 However, surveys of mutation status in idiopathic PAH have revealed a prevalence of about 10%- 20% of BMPR2 mutation carriers.7 Thus, as shown in Figure 1, the largest number of patients with the gene raising the risk of PH is in the idiopathic group, and these actually outnumber the known family cases. One of the scientists vital to the discovery of BMPR2 mutations, William Nichols, PhD, at the University of Cincinnati, now has National Institutes of Health (NIH) funding to obtain DNA and RNA from a large number of patients with idiopathic PAH from multiple centers, to discover the actual prevalence of BMPR2 mutations in a USA cohort, and to look for other genetic associations with PH.

【 授权许可】

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