Pulmonary arterial hypertensionGene: CBLN2
In PMID: 23502781 (2013) a novel gene related to PAH has been described in a genome-wide association study (GWAS) based on case-control studies for idiopathic and familial PAH (without BMPR2 mutations), including a total of 625 cases and 1,525 healthy individuals. They 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.
Created: 19 Jun 2017, 12:40 p.m.
Mode of inheritance
Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.
CBLN2 was created by LouiseD
CBLN2 was added to Pulmonary arterial hypertensionpanel. Sources: Literature