DNA Methylation Biomarkers

Cycle showing the connection between external environment, epigenetics, and health and disease

Figure Reference: Made by A. Kupsco with Biorender

Characterizing the epigenetic mechanisms underlying environmental disease has the potential to provide novel biomarkers and therapeutics for critical intervention and prevention efforts. DNA methylation is a key epigenetic regulator of gene expression that can reflect a cellular memory of past exposures. Through the Columbia University North Plains Superfund Research Program, we have been working to profile DNA methylation biomarkers over 10 years in American Indians. We have demonstrated that epigenetic biomarkers of lead exposure, an important cardiotoxic metal, are related to cardiovascular disease incidence and mortality in the absence of explicit lead biomarkers. We further found that epigenetic biomarkers of DNA methylation aging were associated with cadmium and zinc levels in American Indians.

In the wet lab, we use DNA methylation arrays from Illumina to measure epigenetics at 850,000 sites across the genome. We also have expertise in targeted bisulfite sequencing and welcome collaborations with whole genome bisulfite sequencing or reduced representation bisulfite sequencing.

Sample Publications

Gaylord A, Cohen AA, Kupsco A, Biomarkers of aging through the life course: A Recent Literature Update. Current opinion in epidemiology and public health. 2023, 2(2): 7-17. PMCID: PMC10732539.

Lieberman-Cribbin W, Domingo-Relloso A, Navas-Acien A, Cole S, Haack K, Umans J, Tellez-Plaza M, Colicino E, Baccarelli AA, Gao X, Kupsco A. Epigenetic biomarkers of lead exposure and cardiovascular disease: prospective evidence in the Strong Heart Study. J Am Heart Assoc. 2022 Dec 6;11(23):e026934. PMID: 36382957.

Boyer K, Domingo-Relloso A, Jiang E, Haack K, Goessler W, Zhang Y, Umans JG, Belsky DW, Cole S, Navas-Acien A, Kupsco A. Metal Mixtures and DNA Methylation Measures of Biological Aging in American Indian Populations. Environment International. 2023, 178: 108064. PMCID: PMC10617409