Evidence map›Paper›PMID 31451708›Full record

Observational studyNature communications2019

Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

Jacklyn N Hellwege, Digna R Velez Edwards, Ayush Giri, Chengxiang Qiu, Jihwan Park, Eric S Torstenson, Jacob M Keaton, O D Wilson, Cassianne Robinson-Cohen, Cecilia P Chung and 20 more

Open access · goldAbstract readObservational Study
In one paragraph

Observational study in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
90citing papers in PubMed, 10 pooled it
11.7field-weighted citation impact, top 1% 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

90 citing papers in PubMed, 10 syntheses or guidelines pooled it, 141 citations in OpenAlex.

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  16. SLC39A8-mediated zinc dyshomeostasis potentiates kidney disease.Proceedings of the National Academy of Sciences of the United States of America · 2025
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30 more citing papers are in PubMed but not listed here.

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

30 authors at 15 institutions in 3 countries.

Jacklyn N HellwegeBiomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.ORCID http://orcid.org/0000-0001-7479-0920
Digna R Velez EdwardsBiomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.
Ayush GiriBiomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.ORCID http://orcid.org/0000-0002-7786-4670
Chengxiang QiuDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.
Jihwan ParkDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-5728-912X
Eric S TorstensonBiomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.
Jacob M KeatonBiomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.
O D WilsonDivision of Nephrology and Hypertension, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Cassianne Robinson-CohenDivision of Nephrology and Hypertension, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Cecilia P ChungBiomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.
Christianne L RoumieVeteran Affairs Administration Tennessee Valley VA Health Care System Geriatric Research Education Clinical Center (GRECC), Nashville, TN, USA.
Derek KlarinVA Boston Health Care System, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4636-5780
Scott M DamrauerDepartment of Surgery, Corporal Michael Crescenz VA Medical Center, Philadelphia, PA, USA.
Scott L DuVallVA Salt Lake City Health Care System, Salt Lake City, UT, USA.ORCID http://orcid.org/0000-0002-4898-3865
Edward SiewDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Elvis A AkwoDivision of Nephrology and Hypertension, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Matthias WuttkeInstitute of Genetic Epidemiology, Department of Biometry, Epidemiology and Medical Bioinformatics, Faculty of Medicine and Medical Centre-University of Freiburg, Freiburg, Germany.ORCID http://orcid.org/0000-0003-3420-5082
Mathias GorskiDepartment of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany.ORCID http://orcid.org/0000-0002-9103-5860
Man LiVA Boston Health Care System, Boston, MA, USA.ORCID http://orcid.org/0000-0002-3839-0281
Yong LiInstitute of Genetic Epidemiology, Department of Biometry, Epidemiology and Medical Bioinformatics, Faculty of Medicine and Medical Centre-University of Freiburg, Freiburg, Germany.ORCID http://orcid.org/0000-0003-2651-8791
J Michael GazianoProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Peter W F WilsonAtlanta VA Medical Center, Atlanta, GA, USA.
Philip S TsaoVA Palo Alto Health Care System, Palo Alto, CA, USA.
Christopher J O'DonnellVA Boston Health Care System, Boston, MA, USA.
Csaba P KovesdyNephrology Section, Memphis VA Medical Center, Memphis, TN, USA.
Cristian PattaroInstitute for Biomedicine, Eurac Research, Bolzano, Italy.ORCID http://orcid.org/0000-0002-4119-0109
Anna KöttgenInstitute of Genetic Epidemiology, Department of Biometry, Epidemiology and Medical Bioinformatics, Faculty of Medicine and Medical Centre-University of Freiburg, Freiburg, Germany.ORCID http://orcid.org/0000-0002-4671-3714
Katalin SusztakDepartment of Medicine, Renal Electrolyte and Hypertension Division, University of Pennsylvania, Philadelphia, PA, USA.ORCID http://orcid.org/0000-0002-1005-3726
Todd L EdwardsBiomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA. todd.l.edwards@vanderbilt.edu.ORCID http://orcid.org/0000-0003-4318-6119
Adriana M HungBiomedical Laboratory Research and Development, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA. adriana.hung@vanderbilt.edu.ORCID http://orcid.org/0000-0002-3203-1608
Vanderbilt University · USVanderbilt University Medical Center · USUniversity of Pennsylvania · USBroad Institute · USUniversity of Freiburg · DEUniversity of Utah · USBrigham and Women's Hospital · USEmory Healthcare · USEurac Research · ITGeriatric Research Education and Clinical Center · USJohns Hopkins University · USPhiladelphia VA Medical Center · USUniversity Hospital Regensburg · DEUniversity of Tennessee Health Science Center · USVA Palo Alto Health Care System · US

Funding

Tumor Immunology and Microenvironment Research ProgramP30CA068485 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI STACIE B DUSETZINA · 1995 to 2026
$172.8M
The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4M
Shop Module CoreP30EY008126 · NEI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI David J. Calkins · 1989 to 2026
$19.6M
Pharmacogenomics of Arrhythmia TherapyU19HL065962 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2010 to 2014
$17.4M
Understanding and preventing HLA-associated drug reactionsP50GM115305 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI PHILLIPS, ELIZABETH · 2015 to 2019
$13.0M
Building Interdisciplinary Research Careers in Women's HealthK12HD043483 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI HARTMANN, KATHERINE E, MAJOR, AMY S · 2002 to 2023
$10.3M
Role of the Notch Pathway in Kidney InjuryR01DK076077 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI KATALIN SUSZTAK · 2007 to 2026
$8.0M
APOL1 associated kidney diseaseR01DK105821 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2016 to 2024
$4.6M
Vanderbilt Training Program in Molecular and Genetic Epidemiology of CancerT32CA160056 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Xiao-Ou Shu · 2017 to 2026
$3.8M
VGM: Vanderbilt Genomic Medicine Training ProgramT32HG008341 · NHGRI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Nancy J Cox, Joseph F. Peterson · 2016 to 2026
$2.8M
Epigenetic drivers and biomarkers of diabetic kidney diseaseDP3DK108220 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI SUSZTAK, KATALIN · 2015 to 2015
$2.4M
A Personalized Medicine Approach to Improve the Prediction of Azathioprine ToxicityR01GM126535 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI CHUNG, CECILIA PILAR · 2018 to 2022
$2.3M
BLRD VA I01 BX002641BLRD VA I01 BX003360BLRD VA I01 BX003362CSRD VA I01 CX000570CSRD VA I01 CX000982NCATS NIH HHS UL1 TR000445NCI NIH HHS P30 CA068485NCI NIH HHS T32 CA160056NCRR NIH HHS S10 RR025141NEI NIH HHS P30 EY008126NHGRI NIH HHS T32 HG008341NHLBI NIH HHS R21 HL121429NHLBI NIH HHS U19 HL065962NIAMS NIH HHS K23 AR064768NICHD NIH HHS K12 HD043483NIDDK NIH HHS DP3 DK108220NIDDK NIH HHS K01 DK109019NIDDK NIH HHS R01 DK076077NIDDK NIH HHS R01 DK105821NIGMS NIH HHS P50 GM115305NIGMS NIH HHS R01 GM126535NIH HHS S10 OD023680NIH HHS S10 OD025092ORD VA RES 13-457
6 · The paper itself

Abstract

Chronic kidney disease (CKD), defined by low estimated glomerular filtration rate (eGFR), contributes to global morbidity and mortality. Here we conduct a transethnic Genome-Wide Association Study of eGFR in 280,722 participants of the Million Veteran Program (MVP), with replication in 765,289 participants from the Chronic Kidney Disease Genetics (CKDGen) Consortium. We identify 82 previously unreported variants, confirm 54 loci, and report interesting findings including association of the sickle cell allele of betaglobin among non-Hispanic blacks. Our transcriptome-wide association study of kidney function in healthy kidney tissue identifies 36 previously unreported and nine known genes, and maps gene expression to renal cell types. In a Phenome-Wide Association Study in 192,868 MVP participants using a weighted genetic score we detect associations with CKD stages and complications and kidney stones. This investigation reinterprets the genetic architecture of kidney function to identify the gene, tissue, and anatomical context of renal homeostasis and the clinical consequences of dysregulation.

Indexed as

AdultAgedAnimalsCell LineChromosome MappingCohort StudiesComputational BiologyFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGlomerular Filtration RateHumansKidneyMaleMice

Identifiers

PMID31451708
PMCPMC6710266
OpenAlexW2969497424

What OpenQuestion holds

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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.