Fig 5. Look-up and replication analyses within EWAS on common disease states.

A structured literature search was performed to identify existing EWAS on 19 common disease states (either prevalent or incident). (1) We first determined whether associations in our study replicated those of previous studies. We focussed only on associations that were common to basic and fully adjusted models. There were 69 prevalent associations across 4 conditions (breast cancer, CKD, ischemic heart disease, and type 2 diabetes), and 64 incident associations across 2 conditions (COPD and type 2 diabetes). We found that 11/69 prevalent associations and 8/64 incident associations were reported in the literature. (2) We then turned our attention to the existing studies and asked whether studies that examined the same trait (e.g., incident type 2 diabetes) reported the same loci in their studies. We omit our study here as we are only interested in the previous literature. We required that a CpG site was reported in at least 2 studies that examined the same trait. There was a limited amount of replication in the literature as indicated in the right-hand side of the figure. Image created using Biorender.com. CKD, chronic kidney disease; CpG, cytosine-phosphate-guanine dinucleotide; COPD, chronic obstructive pulmonary disease; IBD, inflammatory bowel disease.