Evidence map›Paper›PMID 32310939›Full record

ArticlePLoS genetics2020

Discovery of novel hepatocyte eQTLs in African Americans.

Yizhen Zhong, Tanima De, Cristina Alarcon, C Sehwan Park, Bianca Lec, Minoli A Perera

Open access · goldAbstract read
In one paragraph

Article in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
5.9field-weighted citation impact, top 3% of its field
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

17 citing papers in PubMed, 37 citations in OpenAlex.

  1. Article
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  6. LA-GEM: imputation of gene expression with incorporation of Local Ancestry.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2024
    Article
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  9. Review
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  11. The Role of Global and Local Ancestry on Clopidogrel Response in African Americans.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2023
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Incorporation of DNA methylation into eQTL mapping in African Americans.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2021
    Article
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

6 authors at 1 institution in 1 country.

Yizhen ZhongDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
Tanima DeDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.ORCID 0000-0001-9240-3744
Cristina AlarconDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
C Sehwan ParkDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.ORCID 0000-0003-0378-507X
Bianca LecDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
Minoli A PereraDepartment of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, United States of America.
Northwestern University · US

Funding

African American Cardiovascular pharmacogenetic CONsorTium (ACCOuNT): discovery and translationU54MD010723 · NIMHD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI MELTZER, DAVID O, PERERA, MINOLI A · 2016 to 2020
$9.5M
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 MD009217NIMHD NIH HHS U54 MD010723
6 · The paper itself

Abstract

African Americans (AAs) are disproportionately affected by metabolic diseases and adverse drug events, with limited publicly available genomic and transcriptomic data to advance the knowledge of the molecular underpinnings or genetic associations to these diseases or drug response phenotypes. To fill this gap, we obtained 60 primary hepatocyte cultures from AA liver donors for genome-wide mapping of expression quantitative trait loci (eQTL) using LAMatrix. We identified 277 eGenes and 19,770 eQTLs, of which 67 eGenes and 7,415 eQTLs are not observed in the Genotype-Tissue Expression Project (GTEx) liver eQTL analysis. Of the eGenes found in GTEx only 25 share the same lead eQTL. These AA-specific eQTLs are less correlated to GTEx eQTLs. in effect sizes and have larger Fst values compared to eQTLs found in both cohorts (overlapping eQTLs). We assessed the overlap between GWAS variants and their tagging variants with AA hepatocyte eQTLs and demonstrated that AA hepatocyte eQTLs can decrease the number of potential causal variants at GWAS loci. Additionally, we identified 75,002 exon QTLs of which 48.8% are not eQTLs in AA hepatocytes. Our analysis provides the first comprehensive characterization of AA hepatocyte eQTLs and highlights the unique discoveries that are made possible due to the increased genetic diversity within the African ancestry genome.

Indexed as

Adaptor Proteins, Signal TransducingAlternative SplicingBlack or African AmericanCytochrome P-450 CYP3AExonsFemaleGene ExpressionGenetic Predisposition to DiseaseGenetics, MedicalGenome, HumanGenome-Wide Association StudyHepatocytesHumansLiverMaleNerve Tissue ProteinsAdaptor Proteins, Signal TransducingCYP3A5 protein, humanCytochrome P-450 CYP3ANerve Tissue ProteinsSTRADB protein, human

Identifiers

PMID32310939
PMCPMC7192504
OpenAlexW3017176012

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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 OpenQuestion graph.