Phenome-wide analyses establish a specific association between aortic valve PALMD expression and calcific aortic valve stenosis.

ABSTRACT: Calcific aortic valve stenosis (CAVS) is a frequent heart disease with significant morbidity and mortality. Recent genomic studies have identified a locus near the gene PALMD (palmdelphin) strongly associated with CAVS. Here, we show that genetically-determined expression of PALMD in the aortic valve is inversely associated with CAVS, with a stronger effect in women, in a meta-analysis of two large cohorts totaling 2359 cases and 350,060 controls. We further demonstrate the specificity of this relationship by showing the absence of other significant association between the genetically-determined expression of PALMD in 9 tissues and 852 phenotypes. Using genome-wide association studies meta-analyses of cardiovascular traits, we identify a significant colocalized positive association between

SUBMITTER: Li Z 

PROVIDER: S-EPMC7455695 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature