Evidence map›Paper›PMID 41919390›Full record

ArticleCirculation. Genomic and precision medicine2026

Friend of GATA2 Variant Ser657Gly Is Associated With Coronary Microvascular Disease.

Marie A Guerraty, Shefali S Verma, Yi-An Ko, Michael A McQuillan, Donna M Conlon, John W Tobias, Michael G Levin, William Haury, Fangyuan Zheng, Tess Cherlin and 6 more

Abstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

16 authors.

Marie A GuerratyDivision of Cardiovascular Medicine, Department of Medicine (M.A.G., D.M.C., M.G.L., Z.A.), University of Pennsylvania.ORCID 0000-0002-0766-1253
Shefali S VermaDepartment of Pathology and Laboratory Medicine (S.S.V., T.C.), University of Pennsylvania.ORCID 0000-0001-5216-4670
Yi-An KoDepartment of Genetics (Y.-A.K., M.A.M.Q., W.H., C.Z., R.J., S.A.T., S.M.D., D.J.R.), University of Pennsylvania.ORCID 0000-0002-0066-358X
Michael A McQuillanDepartment of Genetics (Y.-A.K., M.A.M.Q., W.H., C.Z., R.J., S.A.T., S.M.D., D.J.R.), University of Pennsylvania.ORCID 0000-0002-8909-620X
Donna M ConlonDivision of Cardiovascular Medicine, Department of Medicine (M.A.G., D.M.C., M.G.L., Z.A.), University of Pennsylvania.ORCID 0000-0002-9471-3081
John W TobiasPenn Genomics and Sequencing Core, Department of Genetics, University of Pennsylvania (J.W.T.).ORCID 0000-0002-5362-7013
Michael G LevinDivision of Cardiovascular Medicine, Department of Medicine (M.A.G., D.M.C., M.G.L., Z.A.), University of Pennsylvania.ORCID 0000-0002-9937-9932
William HauryDepartment of Genetics (Y.-A.K., M.A.M.Q., W.H., C.Z., R.J., S.A.T., S.M.D., D.J.R.), University of Pennsylvania.ORCID 0009-0002-0656-2234
Fangyuan ZhengBioinformatic Core, Institute for Biomedical Informatics, Perelman School of Medicine, University of Pennsylvania (F.Z.).ORCID 0000-0003-2754-1563
Tess CherlinDepartment of Pathology and Laboratory Medicine (S.S.V., T.C.), University of Pennsylvania.ORCID 0000-0001-7495-7313
Chao ZhangDepartment of Genetics (Y.-A.K., M.A.M.Q., W.H., C.Z., R.J., S.A.T., S.M.D., D.J.R.), University of Pennsylvania.ORCID 0000-0002-0687-9058
Renae JudyDepartment of Genetics (Y.-A.K., M.A.M.Q., W.H., C.Z., R.J., S.A.T., S.M.D., D.J.R.), University of Pennsylvania.ORCID 0000-0003-0915-2222
Sarah A TishkoffDepartment of Genetics (Y.-A.K., M.A.M.Q., W.H., C.Z., R.J., S.A.T., S.M.D., D.J.R.), University of Pennsylvania.ORCID 0000-0002-1339-5959
Scott M DamrauerDepartment of Genetics (Y.-A.K., M.A.M.Q., W.H., C.Z., R.J., S.A.T., S.M.D., D.J.R.), University of Pennsylvania.ORCID 0000-0001-8009-1632
Zoltan AranyDivision of Cardiovascular Medicine, Department of Medicine (M.A.G., D.M.C., M.G.L., Z.A.), University of Pennsylvania.ORCID 0000-0003-1368-2453
Daniel J RaderDepartment of Genetics (Y.-A.K., M.A.M.Q., W.H., C.Z., R.J., S.A.T., S.M.D., D.J.R.), University of Pennsylvania.ORCID 0000-0002-9245-9876

Funding

FOG2 isoforms in Coronary Microvascular DiseaseR01HL175485 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI Marie A Guerraty · 2024 to 2026
$1.9M
NHLBI NIH HHS R01 HL175485
6 · The paper itself

Abstract

backgroundThe coronary microvasculature is crucial for proper cardiac function, and coronary microvascular disease (CMVD) has emerged as an underdiagnosed and undertreated cause of ischemic heart disease. FOG2 (friend of GATA 2) is a transcriptional co-regulator crucial for coronary development and the maintenance of the coronary microvasculature in adult mice. Little is known about the role of FOG2 in humans or its role in CMVD. Here, we report a genotype-first approach to determine the role of FOG2 in human CMVD.

methodsWe performed phenome-wide association studies and deep cardiac phenotyping through the Electronic Health Record in individuals with FOG2 coding variants. We interrogated MagNET heart tissue data to identify genes and pathways associated with rs28374544. We then overexpressed FOG2S657G in a cardiomyocyte cell line and assessed the effects on cardiac metabolism and paracrine angiogenic signaling.

resultsWe identified an association between rs28374544 (A1969G, p.S657G) and CMVD. Using phenome-wide association studies and deep cardiac phenotyping through the Electronic Health Record in individuals with FOG2 coding variants, we identified an association between rs28374544 (A1969G, p.S657G) and CMVD. Individuals carrying the S657G variant, almost all of African ancestry, had increased chest pain, a smaller burden of obstructive coronary artery disease, and altered coronary blood flow. Differential gene and pathway analysis using several genomic data sets showed that carriers of S657G have increased expression of genes involved in angiogenesis, glycolysis, and the HIF (hypoxia-inducible factor) pathway. In vitro functional studies show that compared with the FOG2 wild-type protein, the FOG2

conclusionsA common functional coding variant in FOG2, S657G, is associated with CMVD in humans. Altered angiogenic gene expression, regulated in part by FOG2, may contribute to CMVD.

Indexed as

Coronary Artery DiseaseDNA-Binding ProteinsTranscription FactorsAnimalsCoronary VesselsFemaleHumansMaleMiddle AgedMyocytes, CardiacPolymorphism, Single NucleotideDNA-Binding ProteinsTranscription FactorsZFPM2 protein, humanangiogenesischest paingene expressionglycolysisoxygen consumption

Identifiers

PMID41919390
PMCPMC13102351

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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.