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Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension

Marine Germain 1, 2, 3 Mélanie Eyries 4, 2, 3, 5 David Montani 6, 7 Odette Poirier 4, 2, 3 Barbara Girerd 6, 7 Peter Dorfmüller 6, 7, 8 Florence Coulet 5 Sophie Nadaud 4, 2, 3 Svetlana Maugenre 4, 2, 3 Christophe Guignabert 6, 7, 8 Wassila Carpentier 9, 2 Anton Vonk-Noordegraaf 10 Marilyne Levy 11 Ari Chaouat 12 Jean-Charles Lambert 13 Marion Bertrand 14, 2 Anne-Marie Dupuy 15 Luc Letenneur 16 Mark Lathrop 17 Philippe Amouyel 13 Thomy de Ravel 18 Marion Delcroix 19, 20 Eric Austin 21 Ivan Robbins 21 Anna Hemnes 21 James Loyd 21 Erika Berman-Rosenzweig 22 Robyn Barst 22 Wendy Chung 22 Gérald Simonneau 6, 7 David Tregouet 1, 2, 3 Marc Humbert 6, 7 Florent Soubrier 4, 2, 3
Abstract : 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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Marine Germain, Mélanie Eyries, David Montani, Odette Poirier, Barbara Girerd, et al.. Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. Nature Genetics, Nature Publishing Group, 2013, 45 (5), pp.518-521. ⟨10.1038/ng.2581⟩. ⟨hal-02565627⟩

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