title: Genetic studies of pulmonary arterial hypertension.
abstract: These genetic studies of primary pulmonary hypertension (PPH) initially tried to define immunogenetic subsets. Because only small subsets could be classified when defined by HLA/autoantibody associations and the familial form of PPH failed to segregate with the HLA class II locus, the focus shifted to a genome scan of families with PPH (FPPH). This approach identified a gene on chromosome 2q33,34 called PPH1. Mutations in this gene, now known to be bone morphogenetic protein receptor 2 (BMPR2), can cause PPH. Mutations in a second gene, ALK-1, present in families with hereditary hemorrhagic telangiectasia type 2, also causes PPH. Both genes, involved in TGF-B signaling, provide exciting clues for defining the pathogenesis of PPH.
authors.affiliation: Columbia University College of Physicians and Surgeons, Department of Medicine, New York, NY 10032, USA. jhm4@columbia.edu
authors.forename: J H
authors.initials: JH
authors.lastname: Morse
mesh_terms: D052006:Bone Morphogenetic Protein Receptors, Type II; D006801:Humans; D006976:Hypertension, Pulmonary / Q000145:classification / Q000235:genetics* / Q000276:immunology; D007125:Immunogenetics; D008285:Major Histocompatibility Complex; D017346:Protein Serine-Threonine Kinases / Q000235:genetics / Q000276:immunology
chemical_list: D017346:Protein Serine-Threonine Kinases; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II