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@ARTICLE{Carbonneau:280965,
author = {Carbonneau, Madeleine and Li, Yi and Qu, Yishu and Zheng,
Yinan and Wood, Alexis C and Wang, Mengyao and Liu, Chunyu
and Huan, Tianxiao and Joehanes, Roby and Guo, Xiuqing and
Yao, Jie and Taylor, Kent D and Tracy, Russell P and Durda,
Peter and Liu, Yongmei and Johnson, W Craig and Post, Wendy
S and Blackwell, Tom and Rotter, Jerome I and Rich, Stephen
S and Redline, Susan and Fornage, Myriam and Wang, Jun and
Ning, Hongyan and Hou, Lifang and Lloyd-Jones, Donald and
Ferrier, Kendra and Min, Yuan-I and Carson, April P and
Raffield, Laura M and Teumer, Alexander and Grabe, Hans J
and Völzke, Henry and Nauck, Matthias and Dörr, Marcus and
Domingo-Relloso, Arce and Fretts, Amanda and Tellez-Plaza,
Maria and Cole, Shelley A and Navas-Acien, Ana and Wang,
Meng and Murabito, Joanne M and Heard-Costa, Nancy L and
Prescott, Brenton and Xanthakis, Vanessa and Mozaffarian,
Dariush and Levy, Daniel and Ma, Jiantao},
title = {{DNA} {M}ethylation {S}ignatures of {C}ardiovascular
{H}ealth {P}rovide {I}nsights {I}nto {D}iseases.},
journal = {Circulation},
volume = {152},
number = {7},
issn = {0009-7322},
address = {Philadelphia, Pa.},
publisher = {Lippincott, Williams $\&$ Wilkins},
reportid = {DZNE-2025-01047},
pages = {436 - 449},
year = {2025},
abstract = {The association of overall cardiovascular health (CVH) with
changes in DNA methylation (DNAm) has not been well
characterized.We calculated the American Heart Association's
Life's Essential 8 score to reflect CVH in 5 cohorts with
diverse backgrounds (mean age 54 years, $55\%$ women, and
enrollment year ranging from 1989 to 2012). Epigenome-wide
association studies (EWAS) for Life's Essential 8 score were
conducted, followed by bioinformatic analyses. DNAm loci
significantly associated with Life's Essential 8 score were
used to calculate a CVH DNAm score. We examined the
association of the CVH DNAm score with incident
cardiovascular disease (CVD), cardiovascular
disease-specific mortality, and all-cause mortality.We
identified 609 cytosine-phosphate-guanines (CpGs) associated
with Life's Essential 8 score at false discovery rate<0.05
in the discovery analysis and at Bonferroni-corrected P<0.05
in the multicohort replication stage. Most had low to
moderate heterogeneity (414 CpGs $[68.0\%]$ with
heterogeneity <0.2) in replication analysis. Pathway
enrichment analyses and a phenome-wide association study
search associated these CpGs with inflammatory or autoimmune
phenotypes. We observed enrichment for phenotypes in the
Epigenome-Wide Association Study Catalog, with 29-fold
enrichment for stroke (P=2.4e-15) and 21-fold for ischemic
heart disease (P=7.4e-38). Two-sample Mendelian
randomization (MR) analysis showed significant association
between 141 CpGs and ten phenotypes (261 CpG-phenotype
pairs) at false discovery rate<0.05. For example,
hypomethylation at cg20544516 (MIR33B [microRNA 33b] and
SREBF1 [sterol regulatory element-binding transcription
factor 1]) is associated with a lower risk of stroke
(P=8.1e-6). In multivariable prospective analyses, the CVH
DNAm score was consistently associated with clinical
outcomes across participating cohorts. Per SD increase in
the CVH DNAm score, the decrease in risk of incident
cardiovascular disease, cardiovascular disease mortality,
and all-cause mortality ranged from $19\%$ to $32\%,$ $28\%$
to $40\%,$ and $27\%$ to $45\%,$ respectively.We identified
new DNAm signatures for CVH across diverse cohorts. Our
analyses indicate that multiple biological pathways may be
relevant to the observed association between CVH and
clinical outcomes.},
keywords = {DNA methylation (Other) / Life’s Essential 8 (Other) /
all-cause mortality (Other) / cardiovascular diseases
(Other) / cardiovascular health (Other) / epigenome-wide
association study (Other)},
cin = {AG Grabe},
ddc = {610},
cid = {I:(DE-2719)5000001},
pnm = {353 - Clinical and Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:40654086},
pmc = {pmc:PMC12262172},
doi = {10.1161/CIRCULATIONAHA.124.073181},
url = {https://pub.dzne.de/record/280965},
}