Methylome-wide association studies and epigenetic biomarker development for 133 mass spectrometry-assessed circulating proteins in 14,671 Generation Scotland participants
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Josephine A Robertson Jakub Bajzik Spyros Vernardis Aleksandra D Chybowska Daniel L McCartney Arturas Grauslys Jure Mur Hannah M Smith Archie Campbell Camilla Drake Hannah Grant Jamie Pearce Tom C Russ Poppy Adkin Matthew White Charles Brigden Christoph Messner David J Porteous Caroline Hayward Simon R Cox Aleksej Zelezniak Markus Ralser Matthew R Robinson Riccardo E MarioniAbstract
DNA methylation (DNAm) can regulate gene expression, and its genome-wide patterns (epigenetic scores or EpiScores) can act as biomarkers for complex traits. The relative stability of methylation profiles may enable better assessment of chronic exposures compared to single time-point protein measures. We present the first large-scale epigenetic study of the highly-abundant serum proteome measured via ultra-high throughput mass spectrometry in 14,671 samples from the Generation Scotland cohort. We further demonstrate the first large-scale comparison of protein EpiScores and their respective proteins as predictors of incident cardiovascular disease.
Journal details
Journal
Genome Biology
Volume
26
Issue number
1
Pages
417
Available online
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10.1186/s13059-025-03892-0
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Europe PubMed Central
41361833
Pubmed
41361833
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