Article
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
Nature genetics - 1 May 2013
Germain Marine, Eyries Mélanie, Montani David, Poirier Odette, Girerd Barbara, Dorfmüller Peter, Coulet Florence, Nadaud Sophie, Maugenre Svetlana, Guignabert Christophe, Carpentier Wassila, Vonk-Noordegraaf Anton, Lévy Marilyne, Chaouat Ari, Lambert Jean-Charles, Bertrand Marion, Dupuy Anne-Marie, Letenneur Luc, Lathrop Mark, Amouyel Philippe, de Ravel Thomy J L, Delcroix Marion, Austin Eric D, Robbins Ivan M, Hemnes Anna R, Loyd James E, Berman-Rosenzweig Erika, Barst Robyn J, Chung Wendy K, Simonneau Gerald, Trégouët David A, Humbert Marc, Soubrier Florent
Abstract excerpt
Pulmonary arterial hypertension (PAH) is a rare, severe disease resulting from progressive obliteration of small-caliber pulmonary arteries by proliferating vascular cells. PAH can occur without recognized etiology (idiopathic PAH), be associated with a systemic disease or occur as a heritable form, with BMPR2 mutated in approximately 80% of familial and 15% of idiopathic PAH cases. We conducted a genome-wide...
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