Hedman ÅK, Mendelson MM, Marioni RE, Gustafsson S, Joehanes R, Irvin MR, Zhi D, Sandling JK, Yao C, Liu C, Liang L, Huan T, McRae AF, Demissie S, Shah S, Starr JM, Cupples LA, Deloukas P, Spector TD, Sundström J, Krauss RM, Arnett DK, Deary IJ, Lind L, Levy D, Ingelsson E
Circ Cardiovasc Genet 10 (1) - [2017-01-00; online 2017-02-19]
Genome-wide association studies have identified loci influencing circulating lipid concentrations in humans; further information on novel contributing genes, pathways, and biology may be gained through studies of epigenetic modifications. To identify epigenetic changes associated with lipid concentrations, we assayed genome-wide DNA methylation at cytosine-guanine dinucleotides (CpGs) in whole blood from 2306 individuals from 2 population-based cohorts, with replication of findings in 2025 additional individuals. We identified 193 CpGs associated with lipid levels in the discovery stage ( We report novel associations of DNA methylation with lipid levels, describe epigenetic mechanisms related to previous genome-wide association studies discoveries, and provide evidence implicating epigenetic regulation of reverse cholesterol transport in blood in relation to occurrence of cardiovascular disease events.