Evidence map›Paper›PMID 39202457›Full record

ArticleGenes2024

Genotype-First Approach Identifies an Association between rs28374544/FOG2

Donna M Conlon, Siri Kanakala, Tess Cherlin, Yi-An Ko, Cecilia Vitali, Sharavana Gurunathan, Rasika Venkatesh, Jakob Woerner, Lindsay A Guare, Penn Medicine Biobank and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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

13 authors.

Donna M ConlonDepartment of Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd., Philadelphia, PA 19104, USA.
Siri KanakalaDepartment of Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd., Philadelphia, PA 19104, USA.
Tess CherlinDepartment of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.ORCID 0000-0001-7495-7313
Yi-An KoDepartment of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Cecilia VitaliDepartment of Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd., Philadelphia, PA 19104, USA.
Sharavana GurunathanDepartment of Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd., Philadelphia, PA 19104, USA.ORCID 0000-0001-9817-7282
Rasika VenkateshDepartment of Genetics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.ORCID 0009-0003-4471-4291
Jakob WoernerDepartment of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Lindsay A GuareDepartment of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.ORCID 0000-0001-6988-5319
Penn Medicine BiobankPerelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Anurag VermaDepartment of Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd., Philadelphia, PA 19104, USA.
Shefali S VermaDepartment of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.
Marie A GuerratyDepartment of Medicine, University of Pennsylvania Perelman School of Medicine, 3400 Civic Center Blvd., Philadelphia, PA 19104, USA.

Funding

TRANSGENIC AND CHIMERIC MOUSE COREP30DK050306 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI REBECCA G WELLS · 1997 to 2026
$32.5M
University of Pennsylvania Postdoctoral Opportunities in Research and TeachingK12GM081259 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Janis K. Burkhardt · 2007 to 2026
$20.1M
Burroughs Wellcome Fund Marie GuerratyNIDDK NIH HHS P30 DK050306NIDDK NIH HHS P30-DK050306NIH HHS K12GM081259
6 · The paper itself

Abstract

Metabolic dysfunction-associated Fatty Liver Disease (MAFLD) has emerged as one of the leading cardiometabolic diseases. Friend of GATA2 (FOG2) is a transcriptional co-regulator that has been shown to regulate hepatic lipid metabolism and accumulation. Using meta-analysis from several different biobank datasets, we identified a coding variant of FOG2 (rs28374544, A1969G, S657G) predominantly found in individuals of African ancestry (minor allele frequency~20%), which is associated with liver failure/cirrhosis phenotype and liver injury. To gain insight into potential pathways associated with this variant, we interrogated a previously published genomics dataset of 38 human induced pluripotent stem cell (iPSCs) lines differentiated into hepatocytes (iHeps). Using Differential Gene Expression Analysis and Gene Set Enrichment Analysis, we identified the mTORC1 pathway as differentially regulated between iHeps from individuals with and without the variant. Transient lipid-based transfections were performed on the human hepatoma cell line (Huh7) using wild-type FOG2 and FOG2

Indexed as

DNA-Binding ProteinsMechanistic Target of Rapamycin Complex 1Signal TransductionTranscription FactorsCell Line, TumorGenotypeHepatocytesHumansInduced Pluripotent Stem CellsLipid MetabolismLiver DiseasesPolymorphism, Single NucleotideDNA-Binding ProteinsMechanistic Target of Rapamycin Complex 1Transcription FactorsZFPM2 protein, humanFOG2Functional GenomicsMAFLDmTORC1

Identifiers

PMID39202457
PMCPMC11353451

What OpenQuestion 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 OpenQuestion graph.