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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
Nature genetics, 05/2013, Volume: 45, Issue: 5Journal Article
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 association study (GWAS) based on 2 independent case-control studies for idiopathic and familial PAH (without BMPR2 mutations), including a total of 625 cases and 1,525 healthy individuals. We detected a significant association at the CBLN2 locus mapping to 18q22.3, with the risk allele conferring an odds ratio for PAH of 1.97 (1.59-2.45; P = 7.47 × 10(-10)). CBLN2 is expressed in the lung, and its expression is higher in explanted lungs from individuals with PAH and in endothelial cells cultured from explanted PAH lungs.
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