A comparison of the genes and genesets identified by GWAS and EWAS of fifteen complex traits

• DOI: 10.1038/s41467-022-35037-3
• Publication Date: 2022-12-19T12:15:31Z
• Authors: Thomas Battram; Tom R. Gaunt; Caroline L. Relton; Nicholas J. Timpson; Gibran Hemani
• Keywords: Genome-wide Association Study; Genetic Association; Linkage Disequilibrium; Genetic architecture

Abstract Identifying genomic regions pertinent to complex traits is a common goal of genome-wide and epigenome-wide association studies (GWAS EWAS). GWAS identify causal genetic variants, directly or via linkage disequilibrium, EWAS variation in DNA methylation associated with trait. While principle will only detect variants due genes, can also genes confounding, reverse causation. We systematically compare ( N > 50,000) 4500) results 15 traits. evaluate if the gene ontology terms flagged by overlap, find substantial overlap for diastolic blood pressure, (gene P = 5.2 × 10 −6 ; term 0.001). superimpose our empirical findings against simulated models varying epigenetic architectures observe that most cases are likely capturing distinct genesets. Our indicate different aspects biology