Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
Nat Genet
; 45(5): 518-21, 2013 May.
Article
em En
| MEDLINE
| ID: mdl-23502781
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Genoma Humano
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Predisposição Genética para Doença
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Polimorfismo de Nucleotídeo Único
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Locos de Características Quantitativas
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Estudo de Associação Genômica Ampla
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Hipertensão Pulmonar
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article