Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension

ConclusionsWe report robust association of novel genesKLK1 andGGCX with IPAH, accounting for ~  0.4% and 0.9% of PAH Biobank cases, respectively. Both genes play important roles in vascular hemodynamics and inflammation but have not been implicated in PAH previously. These data suggest new genes, pathogenic mechanisms, and therapeutic targets for this lethal vasculopathy.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research