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Nat Genet. 2013 May;45(5):518-21. doi: 10.1038/ng.2581. Epub 2013 Mar 17.

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

Author information

1
Unité Mixte de Recherche en Santé (UMRS) 937, Université Pierre & Marie Curie (UPMC) Université Paris 6 and Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France.

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.

PMID:
23502781
PMCID:
PMC3983781
DOI:
10.1038/ng.2581
[Indexed for MEDLINE]
Free PMC Article

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