- Hu, Xiaowei;
- Logan, Jeongok G;
- Kwon, Younghoon;
- Lima, Joao AC;
- Jacobs, David R;
- Duprez, Daniel;
- Brumback, Lyndia;
- Taylor, Kent D;
- Durda, Peter;
- Johnson, W Craig;
- Cornell, Elaine;
- Guo, Xiuqing;
- Liu, Yongmei;
- Tracy, Russell P;
- Blackwell, Thomas W;
- Papanicolaou, George;
- Mitchell, Gary F;
- Rich, Stephen S;
- Rotter, Jerome I;
- Van Den Berg, David J;
- Chirinos, Julio A;
- Hughes, Timothy M;
- Garrett-Bakelman, Francine E;
- Manichaikul, Ani
Despite the prognostic value of arterial stiffness (AS) and pulsatile hemodynamics (PH) for cardiovascular morbidity and mortality, epigenetic modifications that contribute to AS/PH remain unknown. To gain a better understanding of the link between epigenetics (DNA methylation) and AS/PH, we examined the relationship of eight measures of AS/PH with CpG sites and co-methylated regions using multi-ancestry participants from Trans-Omics for Precision Medicine (TOPMed) Multi-Ethnic Study of Atherosclerosis (MESA) with sample sizes ranging from 438 to 874. Epigenome-wide association analysis identified one genome-wide significant CpG (cg20711926-CYP1B1) associated with aortic augmentation index (AIx). Follow-up analyses, including gene set enrichment analysis, expression quantitative trait methylation analysis, and functional enrichment analysis on differentially methylated positions and regions, further prioritized three CpGs and their annotated genes (cg23800023-ETS1, cg08426368-TGFB3, and cg17350632-HLA-DPB1) for AIx. Among these, ETS1 and TGFB3 have been previously prioritized as candidate genes. Furthermore, both ETS1 and HLA-DPB1 have significant tissue correlations between Whole Blood and Aorta in GTEx, which suggests ETS1 and HLA-DPB1 could be potential biomarkers in understanding pathophysiology of AS/PH. Overall, our findings support the possible role of epigenetic regulation via DNA methylation of specific genes associated with AIx as well as identifying potential targets for regulation of AS/PH.