Genomics of pulmonary arterial hypertension: implications for therapy.
Pulmonary arterial hypertension (PAH) 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.
Geraci
Mark W
MW
Division of Pulmonary Sciences and Critical Care Medicine, University of Colorado Denver, AMC, MS C272, RC2, 12700 East 19th Avenue, Aurora, CO 80045, USA. mark.geraci@ucdenver.edu
Bull
Todd M
TM
Tuder
Rubin M
RM
D000818:Animals; D015415:Biomarkers; D052006:Bone Morphogenetic Protein Receptors, Type II / Q000235:genetics; D018450:Disease Progression; D019332:Endothelin-1 / Q000187:drug effects / Q000378:metabolism; D015870:Gene Expression; D006801:Humans; D006976:Hypertension, Pulmonary / Q000175:diagnosis / Q000188:drug therapy* / Q000209:etiology / Q000235:genetics*; D009569:Nitric Oxide / Q000378:metabolism; D020411:Oligonucleotide Array Sequence Analysis; D040901:Proteomics; D014664:Vasodilation / Q000187:drug effects
D015415:Biomarkers; D019332:Endothelin-1; D009569:Nitric Oxide; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II