Article
Phenome-wide analyses establish a specific association between aortic valve PALMD expression and calcific aortic valve stenosis.
Communications biology - 28 Aug 2020
Li Zhonglin, Gaudreault Nathalie, Arsenault Benoit J, Mathieu Patrick, Bossé Yohan, Thériault Sébastien
Abstract excerpt
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...
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