Genetic studies of pulmonary arterial hypertension.
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.
Morse
J H
JH
Columbia University College of Physicians and Surgeons, Department of Medicine, New York, NY 10032, USA. jhm4@columbia.edu
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
D017346:Protein Serine-Threonine Kinases; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II