Evidence map›Paper›PMID 42396300›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Atlas of glomerular disease-specific genetic effects on blood transcriptome.

Lili Liu, Chen Wang, Oleksandr Kravets, Damian Fermin, Felix Eichinger, Francesca Zanoni, Atlas Khan, Jun Y Zhang, Yan Ouyang, Qin Li and 35 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

45 authors.

Lili LiuDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Chen WangDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Oleksandr KravetsDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Damian FerminDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Felix EichingerDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Francesca ZanoniDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Atlas KhanDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Jun Y ZhangDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Yan OuyangDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Qin LiDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Patrick HamiltonManchester Institute of Nephrology and Transplantation, Manchester Royal Infirmary, Oxford Road, Manchester, United Kingdom.
Philip A KalraDonal O'Donoghue Renal Research Centre, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Stott Lane, Salford M6 8HD, U.K.
Rajkumar ChinnaduraiDonal O'Donoghue Renal Research Centre, Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust, Stott Lane, Salford M6 8HD, U.K.
Kimberly ReidyDivision of Pediatric Nephrology, Department of Pediatrics, Children's Hospital at Montefiore Einstein, Bronx, New York, USA.
Jeffrey KoppKidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
Krzysztof MuchaDepartment of Immunology, Transplantology and Internal Diseases, Medical University of Warsaw, Warsaw, Poland.
Cathy SmithDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Abigail R SmithDepartment of Preventive Medicine, Division of Biostatistics and Informatics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Michelle McnultyDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Sean EddyDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Viji NairDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Margaret E HelmuthDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Tetyana L VasylyevaTexas Tech University Health Sciences Center, Amarillo, TX, USA.
William E SmoyerThe Research Institute at Nationwide Children's Hospital, The Ohio State University, Columbus, OH, USA.
Celine BerthierDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Rulan ParekhThe Hospital for Sick Children, Toronto, Canada.
Scott E WenderferBaylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Elizabeth OnughaBaylor College of Medicine, Texas Children's Hospital, Houston, TX, USA.
Tess MartinPrinceton Precision Health, Princeton University, Princeton, NJ, USA.
Ksenia SokolovaPrinceton Precision Health, Princeton University, Princeton, NJ, USA.
Rachel S G SealfonPrinceton Precision Health, Princeton University, Princeton, NJ, USA.
Chandra L TheesfeldPrinceton Precision Health, Princeton University, Princeton, NJ, USA.
Afshin ParsaKidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA.
Rasheed GbadegesinDivision of Nephrology, Department of Pediatrics, Duke University, Durham, NC, USA.
Matthew SampsonDivision of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Simone Sanna-CherchiDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Olga G TroyanskayaPrinceton Precision Health, Princeton University, Princeton, NJ, USA.
Dirk S PaulCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Slave PetrovskiCentre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
David GoldsteinActio BioSciences, 11202 El Camino Real, San Diego, CA, USA.
Laura Heyns MarianiDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Ali GharaviDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Columbia Genomics Consortium, NEPTUNE Consortium, CureGN Consortium
Matthias KretzlerDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, MI, USA.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Columbia University, College of Physicians & Surgeons, New York, NY, USA.

Funding

The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso, Michael Wagner · 2019 to 2026
$51.2M
Training Program in Clinical & Translationa Research in Human Glomerular DiseaseU54DK083912 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KRETZLER, MATTHIAS · 2009 to 2023
$20.3M
CureGNU24DK100845 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI CRYSTAL A. GADEGBEKU, Laura H Mariani · 2019 to 2026
$12.1M
Elucidating IgA Nephropathy through Genetic Studies of IgA1 GlycosylationR01DK082753 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI GHARAVI, ALI G, NOVAK, JAN · 2009 to 2024
$8.7M
The Columbia PCC for CureGN: the Cure Glomerulonephropathy networkU01DK100876 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Andrew Stephen Bomback, ALI G GHARAVI · 2019 to 2026
$8.5M
CureGN-Penn PCCU01DK100846 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI LAWRENCE B. HOLZMAN · 2019 to 2026
$8.3M
CUREGN 3.0 - Pediatric Nephrology Consortium - PCCU01DK100866 · NIDDK · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI Laurence A Greenbaum, Jon Klein · 2019 to 2026
$7.7M
CureGN-3: UNCPCCU01DK100867 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Vimal Kumar Derebail, Ronald J Falk · 2019 to 2026
$6.7M
Genomics of glomerular diseaseRC2DK116690 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI KIRYLUK, KRZYSZTOF, KRETZLER, MATTHIAS · 2018 to 2022
$5.0M
Genetics of IgA nephropathy by integrative network-based association studiesR01DK105124 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Krzysztof Kiryluk · 2015 to 2026
$4.8M
Defining the Landscape of HLA Risk Alleles in Primary Nephrotic Syndrome and Post Kidney Transplant RecurrenceU01AI152585 · NIAID · DUKE UNIVERSITY · PI GBADEGESIN, RASHEED ADEBAYO, JACKSON, ANNETTE MARIE · 2020 to 2024
$3.7M
REGULATORS OF CALCINEURIN PATHWAYS AS DIAGNOSTIC AND THERAPEUTIC TARGETS FOR NEPHROTIC SYNDROMER01DK134347 · NIDDK · DUKE UNIVERSITY · PI Rasheed Adebayo Gbadegesin · 2023 to 2026
$2.6M
NCATS NIH HHS U2C TR002818NIAID NIH HHS U01 AI152585NICHD NIH HHS R21 HD104176NIDDK NIH HHS K01 DK137031NIDDK NIH HHS R01 DK082753NIDDK NIH HHS R01 DK105124NIDDK NIH HHS R01 DK134347NIDDK NIH HHS RC2 DK116690NIDDK NIH HHS U01 DK100846NIDDK NIH HHS U01 DK100866NIDDK NIH HHS U01 DK100867NIDDK NIH HHS U01 DK100876NIDDK NIH HHS U24 DK100845NIDDK NIH HHS U54 DK083912
6 · The paper itself

Abstract

IgA nephropathy (IgAN), IgA vasculitis (IgAV), focal segmental glomerulosclerosis (FSGS), membranous nephropathy (MN), and minimal change disease (MCD) account for the majority of idiopathic glomerulo-nephropathies (GN). These disorders involve immune system dysregulation and have a complex genetic architecture. Currently, there are no adequately powered blood transcriptomic datasets coupled to genetic data from patients with GN that can delineate disease-context specific genetic effects on the blood immune cell transcriptome. We performed whole genome sequencing coupled with bulk blood transcriptome sequencing on 1,822 participants from the CureGN study, a prospective cohort of participants with a kidney biopsy diagnosis of primary GN. We generated disease-context specific transcriptome-wide maps of gene expression QTL (eQTL), splicing QTL (sQTL), and double strand RNA-editing QTL (edQTL) for FSGS (N=447), IgAN (N=403), IgAV (N=123), MCD (N=408), and MN (N=441), as well as cross-disease maps for all 1,822 participants. Our QTL mapping identified 16,068 eGenes, 4,644 sGenes and 4,611 edQTLs with an FDR<0.05 in at least one GN type. Approximately 5-10% of the QTL signals were unique to a specific GN type, while ~90% were shared between at least two conditions. Colocalization analysis demonstrated that ~80% of shared eGenes between traits also shared the same causal variants, whereas ~2% had distinct causal variants, suggesting context-specific regulatory effects. Cross-phenotype QTL mapping uncovered 6,466 eGenes, 2,705 sGenes and 5,321 edQTLs not previously detected in GTEx. Age, eGFR, and proteinuria-interaction QTL analyses identified hundreds of loci modified by age or disease severity. Lastly, integrative analyses with GWAS nominated new candidate genes for each of the five GN types under study. In summary, we generated comprehensive maps of GN-context-specific genetic effects on the blood transcriptome, providing a powerful new resource for integrative gene discovery studies of primary GN.

Identifiers

PMID42396300
PMCPMC13321184

What Socratic holds

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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.