Art & Craft Group

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June 13, 2023

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Comparing ethnicity-associated CpG sites with those in the EWAS Catalog [42], we identified enrichment for CpG sites associated with ancestry. This gives further support to our EWAS results. We also observed enrichment amongst CpG sites associated with sex and smoking. Since our analyses are stratified by sex and adjusted for smoking this may suggest residual confounding or highlight that other studies reporting their associations in the EWAS Catalog may have not adjusted for these covariates. We observed strong enrichment amongst CpG sites associated with disease phenotypes, most prominently an enrichment of ethnicity-associated CpG sites associated with metabolites and a depletion of ethnicity-associated CpG sites amongst CpG sites associated with autoimmune diseases amongst others. This finding supports an avenue of further research to define ethnic-specific risk. However, SABRE samples are restricted to healthy individuals (e.g. with no existing diabetes or cardiovascular disease) so this limits the conclusions we can make on phenotype enrichment compared to the EWAS Catalog data.