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Title: Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension
Authors: 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 de l'Argentière, Thomy
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 #
Issue Date: Apr-2013
Publisher: Nature Publishing Group
Series Title: Nature genetics vol:45 issue:5 pages:518-U82
Article number: 10.1038/ng.2581
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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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