reviewNature GeneticsDec 1, 2022HYBRID OA

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants

KGKrishna G. AragamTJTao JiangAGAnuj GoelSKStavroula KanoniBNBrooke N. Wolford

Broad Institute · Massachusetts General Hospital · +54 more institutions

PubMed
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Abstract

The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide association study (GWAS) for coronary artery disease (CAD) comprising 181,522 cases among 1,165,690 participants of predominantly European ancestry. We detected 241 associations, including 30 new loci. Cross-ancestry meta-analysis with a Japanese GWAS yielded 38 additional new loci. We prioritized likely causal variants using functionally informed fine-mapping, yielding 42 associations with less than five variants in the 95% credible set. Similarity-based clustering suggested roles for early developmental processes, cell cycle signaling and vascular…

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Topics & keywords

Topics
Keywords
  • Biology
  • Genome-wide association study
  • Coronary artery disease
  • Genetics
  • Disease
  • Computational biology
  • Genetic association
  • Candidate gene
UN Sustainable Development Goals
  • Good health and well-being
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