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Imputed DNA methylation outperforms measured loci associations with smoking and chronological age

Richmond, A.; Mur, J.; Harris, S.; Corley, J.; Elliott, H. R.; Foley, C. N.; Hannon, E.; Kuncheva, Z.; Min, J.; Moqri, M.; Ndiaye, M.; Sun, B.; Vallejos, C.; Ying, K.; Gladyshev, V. N.; Cox, S. R.; McCartney, D. L.; Marioni, R.

2024-09-10 genetics
10.1101/2024.09.05.611501 bioRxiv
Show abstract

Multi-locus signatures of blood-based DNA methylation are well-established biomarkers for lifestyle and health outcomes. Here, we focus on two CpGs that are strongly associated with age and smoking behaviour. Imputing these loci via epigenome-wide CpGs results in stronger associations with outcomes in external datasets compared to directly measured CpGs. If extended epigenome-wide, CpG imputation could augment historic arrays and recently-released, inexpensive but lower-content arrays, thereby yielding better-powered association studies.

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