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Multi-ancestry epigenome-wide analyses identify methylated sites associated with aortic augmentation index in TOPMed
Ani Manichaikul1, Xiaowei Hu2, Jeongok Logan2
1University of Virginia School of Medicine.
Research Square
|July 28, 2023
Summary
This study reveals DNA methylation patterns linked to arterial stiffness (AS) and pulsatile hemodynamics (PH). Key genes like ETS1 and HLA-DPB1 may serve as biomarkers for AS/PH, offering potential therapeutic targets.
Area of Science:
- Cardiovascular Epigenetics
- Genomics and Precision Medicine
Background:
- Arterial stiffness (AS) and pulsatile hemodynamics (PH) are crucial for cardiovascular health.
- Epigenetic factors, particularly DNA methylation, contributing to AS/PH are largely unknown.
- Understanding these epigenetic links is vital for developing new therapeutic strategies.
Approach:
- Utilized multi-ancestry data from the TOPMed MESA study (N=438-874).
- Performed epigenome-wide association analysis to identify CpG sites associated with AS/PH measures.
- Conducted follow-up analyses including gene set enrichment and expression quantitative trait methylation.
Key Points:
- Identified one genome-wide significant CpG site (cg20711926) in CYP1B1 associated with aortic augmentation index (AIx).
- Prioritized three CpGs and genes (ETS1, TGFB3, HLA-DPB1) for AIx through further analysis.
- Found significant tissue correlations for ETS1 and HLA-DPB1 between whole blood and aorta, suggesting biomarker potential.
Conclusions:
- Supports a role for DNA methylation in regulating genes associated with AIx.
- Highlights ETS1 and HLA-DPB1 as potential biomarkers for understanding AS/PH pathophysiology.
- Identifies potential targets for the regulation of arterial stiffness and pulsatile hemodynamics.
