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Article

Elucidating the genetic architecture of DNA methylation to identify promising molecular mechanisms of disease.

Scientific reports - 15 Nov 2022

Ma Jiantao, Joehanes Roby, Liu Chunyu, Keshawarz Amena, Hwang Shih-Jen, Bui Helena, Tejada Brandon, Sooda Meera, Munson Peter J, Demirkale Cumhur Y, Courchesne Paul, Heard-Costa Nancy L, Pitsillides Achilleas N, Feolo Mike, Sharopova Nataliya, Vasan Ramachandran S, Huan Tianxiao, Levy Daniel

Abstract excerpt

DNA methylation commonly occurs at cytosine-phosphate-guanine sites (CpGs) that can serve as biomarkers for many diseases. We analyzed whole genome sequencing data to identify DNA methylation quantitative trait loci (mQTLs) in 4126 Framingham Heart Study participants. Our mQTL mapping identified 94,362,817 cis-mQTLvariant-CpG pairs (for 210,156 unique autosomal CpGs) at P < 1e-7 and 33,572,145 trans-mQTL...

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Identifiers

PMID: 36380121
DOI: 10.1038/s41598-022-24100-0
PMCID: PMC9664436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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