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Updated: Sep 21, 2025

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
Arsenic Exposure, Blood DNA Methylation, and Cardiovascular Disease
Arce Domingo-Relloso1,2,3, Kiran Makhani4, Angela L Riffo-Campos5,6
1Department of Environmental Health Sciences, Columbia University Mailman School of Public Health, New York, NY (A.D.-R., R.A.G., K.S., M.G.-F., T.R.S., A.N.-A.).
Epigenetic changes, specifically DNA methylation, may link arsenic exposure to cardiovascular disease (CVD). These findings highlight diabetes as a potential mechanism in arsenic-related CVD risk.
Area of Science:
- Environmental Health
- Epigenetics
- Cardiovascular Disease Epidemiology
Background:
- Arsenic exposure is linked to cardiovascular disease (CVD), with epigenetic dysregulation proposed as a key mechanism.
- Differentially methylated positions (DMPs) are investigated as potential mediators in the arsenic-CVD association.
Purpose of the Study:
- To evaluate DMPs as mediators between arsenic exposure and CVD incidence and mortality.
- To compare human DMPs with findings in an animal model of atherosclerosis.
Main Methods:
- Analysis of blood DNA methylation in 2321 American Indian participants from the Strong Heart Study.
- Measurement of urinary arsenic species and identification of DMPs.
- Cross-species analysis comparing human DMPs with liver DNA methylation in arsenic-exposed apoE knockout mice.
Main Results:
- 20 and 13 DMPs were identified as potential mediators for CVD incidence and mortality, respectively.
- Eleven DMPs showed consistent associations with incident CVD across three additional US cohorts.
- Arsenic exposure was associated with DMPs and differentially methylated regions in genes related to diabetes in the mouse model.
Conclusions:
- Differential DNA methylation may mediate the relationship between arsenic exposure and CVD.
- Diabetes-related gene functions suggest diabetes as a significant mechanism for arsenic-induced cardiovascular risk, particularly in high-burden populations.
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