CAD effector gene predictions

Submitted by mariacos on Tue, 05/25/2021 - 14:27

Coronary artery disease effector gene predictions

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Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.
Aragam KG, Jiang T, Goel A, Kanoni S, Wolford B, et al.
Submitted for publication, 2021.
medRxiv preprint


This study integrated eight similarity-based or locus-based predictors of causal genes in order to systematically prioritize likely causal genes for 241 genome-wide association signals found in a large GWAS of nearly 1.2 million participants, including over 180,000 CAD cases. The predictors considered were:

  1. polygenic priority score generated using the PoPS method
  2. eQTLs in CAD-relevant tissues from the Stockholm-Tartu Atherosclerosis Reverse Network Engineering Task (STARNET) eQTL study or the Genotype-Tissue Expression (GTEx) study
  3. protein-altering variants that are in strong LD (r2≥0.8) with the CAD sentinel variant
  4. genes harboring variants responsible for monogenic disorders of cardiovascular relevance according to ClinVar
  5. genes containing rare coding variants that have been associated with CAD risk in previous whole-exome sequencing or array-based studies
  6. genes encoding proteins of causal relevance to CAD per Mendelian randomization studies, or that are targets for established cardiovascular drugs
  7. genes that display cardiovascular-relevant phenotypes in knock-out mice from the International Mouse Phenotyping Consortium or Mouse Genome Informatics database
  8. the nearest gene to the CAD sentinel variant

Find more details on the Research method tab of the CAD effector predictions interface.

t2d, md, cvd