DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Pulmonary arterial hypertension (without BMPR2 mutations). The EFO term pulmonary hypertension was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: pulmonary hypertension

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

M Germain, M Eyries, D Montani, O Poirier, B Girerd, P Dorfmüller, F Coulet, S Nadaud, S Maugenre, C Guignabert, W Carpentier, A Vonk-Noordegraaf, M Lévy, A Chaouat, JC Lambert, M Bertrand, AM Dupuy, L Letenneur, M Lathrop, P Amouyel, TJ de Ravel, M Delcroix, ED Austin, IM Robbins, AR Hemnes, JE Loyd, E Berman-Rosenzweig, RJ Barst, WK Chung, G Simonneau, DA Trégouët, M Humbert, F Soubrier

TITLE:

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

JOURNAL:

Nature genetics May 2013, Vol 45, pp. 518-21

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. PUBMED: 23502781
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