Evidence map›Paper›PMID 39896509›Full record

ArticlebioRxiv : the preprint server for biology2025

MeQTL Mapping in African American Hepatocytes Reveals Shared Genetic Regulators of DNA Methylation and Gene Expression.

Kathryn Carver, Carolina Clark, Yizhen Zhong, Guang Yang, Mrinal Mishra, Cristina Alarcon, Minoli Perera

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Kathryn CarverDepartment of Pharmacology, Center for Pharmacogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611.
Carolina ClarkDepartment of Pharmacology, Center for Pharmacogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611.
Yizhen ZhongDepartment of Pharmacology, Center for Pharmacogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611.
Guang YangDepartment of Pharmacology, Center for Pharmacogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611.
Mrinal MishraDepartment of Pharmacology, Center for Pharmacogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611.
Cristina AlarconDepartment of Pharmacology, Center for Pharmacogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611.
Minoli PereraDepartment of Pharmacology, Center for Pharmacogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611.ORCID 0000-0002-1146-2791

Funding

Health disparity in pharmacogenomics: African American SNPs and drug metabolismR01MD009217 · NIMHD · UNIVERSITY OF CHICAGO · PI PERERA, MINOLI A · 2014 to 2018
$2.0M
NIMHD NIH HHS R01 MD009217
6 · The paper itself

Abstract

Methylation quantitative trait loci (meQTL) mapping can provide insight into the genetic architecture underlying the epigenome by identifying single-nucleotide polymorphisms (SNPs) associated with differential methylation at methylation sites (CpGs) across the genome. Given that the epigenetic architecture underlying differences in gene expression can vary across racial populations, performing epigenomic studies in African Americans is crucial for understanding the interplay between genetic variation, DNA methylation, and gene expression in this understudied group. By performing cis-meQTL mapping in African American hepatocytes, we identified 410,186 cis-meQTLs associated with methylation at 24,425 CpGs in the liver. Through colocalization analysis, we found that 18,206 of these meQTLs are also colocalized with known liver eQTLs. Additionally, we found that using African American eQTL data results in an increased ability to detect additional colocalized variants that exhibit strong differences in allele frequency between people of European and African ancestry. Furthermore, the presence of smaller linkage disequilibrium blocks in African Americans allows us to identify narrower genomic regions of potentially causal variants compared to when data from Europeans is used. Importantly, these colocalized SNPs are significantly enriched for genetic associations with lipid and inflammatory traits in the GWAS catalog, suggesting that DNA methylation may contribute to the etiologies of these diseases. Furthermore, while it is generally presumed that the genetic regulation of DNA methylation is shared between blood and liver, we found that only 5.4% of African American liver meQTLs colocalize with blood meQTLs. Overall, our results reveal that studying African American populations results in the identification of additional genetic and epigenetic factors that may regulate gene expression in the liver, thereby expanding our understanding of gene regulation in African Americans.

Identifiers

PMID39896509
PMCPMC11785176

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.