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

Commun Biol. 2020 Aug 28;3(1):477. doi: 10.1038/s42003-020-01210-x.

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 genetically-determined expression of PALMD in four non-cardiac tissues (brain anterior cingulate cortex, esophagus muscularis, tibial nerve and subcutaneous adipose tissue) and atrial fibrillation. The present work further establishes PALMD as a promising molecular target for CAVS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aortic Valve / pathology*
  • Aortic Valve Stenosis / genetics*
  • Calcinosis / genetics*
  • Female
  • Gene Expression Regulation*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Middle Aged
  • Phenomics*
  • Phenotype
  • Quantitative Trait Loci / genetics
  • Risk Factors
  • Stroke / genetics
  • Transcriptome / genetics

Substances

  • Membrane Proteins
  • PALMD protein, human

Supplementary concepts

  • Aortic Valve, Calcification of

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