Evidence map›Paper›PMID 40970117›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Polygenic Risk Scores and HLA Class II Variants are Biomarkers of Corticosteroid Response in Childhood Nephrotic Syndrome.

Tiffany Tu, Alejandro Ochoa, Amika Sood, Ashley Drabik, Megan Chryst-Stangl, Brandon Lane, Guanghong Wu, Frank Donovan, Ursula Harper, Settara Chandrasekharappa and 41 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. 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

5 · Who and what money

Authors and funding

51 authors.

Tiffany TuComputational Biology and Bioinformatics Program, Duke University, Durham, North Carolina, USA.ORCID 0000-0002-9357-6660
Alejandro OchoaComputational Biology and Bioinformatics Program, Duke University, Durham, North Carolina, USA.ORCID 0000-0003-4928-3403
Amika SoodCenter for Statistical Genetics and Genomics, Duke University, Durham, North Carolina, USA.ORCID 0000-0002-0767-7917
Ashley DrabikDepartment of Surgery and Immunology, Duke University School of Medicine, Durham, NC.ORCID 0009-0005-7305-9956
Megan Chryst-StanglDepartment of Pediatrics and Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC.
Brandon LaneDepartment of Pediatrics and Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC.ORCID 0000-0002-1158-1117
Guanghong WuDepartment of Pediatrics and Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC.
Frank DonovanGenomics Core, National Human Genome Research Institute, NIH, Bethesda, MD.ORCID 0000-0002-7712-2335
Ursula HarperGenomics Core, National Human Genome Research Institute, NIH, Bethesda, MD.
Settara ChandrasekharappaGenomics Core, National Human Genome Research Institute, NIH, Bethesda, MD.ORCID 0000-0002-8084-0530
Christopher EsezoborDepartment of Pediatrics, College of Medicine, University of Lagos, and Lagos University Teaching Hospital, Lagos, Nigeria.ORCID 0000-0003-1736-4794
Adaobi SolarinDepartment of Pediatrics, Lagos State University Teaching Hospital, Ikeja, Lagos, Nigeria.ORCID 0000-0002-2594-5815
David HooperDepartment of Pediatrics, Cincinnati Children's Hospital Medical, Cincinnati, Ohio, USA.ORCID 0000-0001-8732-4291
Christine SethnaDivision of Pediatric Nephrology, Cohen Children's Medical Center, New Hyde Park, NY, USA.ORCID 0000-0002-7666-5792
Sandra AmaralDivision of Nephrology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.ORCID 0000-0001-7357-242X
Mahmoud KallashDivision of Pediatric Nephrology, Nationwide Children's Hospital, Columbus, Ohio.
Michelle RheaultDepartment of Pediatrics, University of Minnesota Medical School, Minneapolis, MN.ORCID 0000-0003-2494-3970
Priya VergheseDepartment of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.ORCID 0000-0002-8836-0881
Vikas DharnidharkaDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO.ORCID 0000-0001-8000-1385
Eloise SalmonDepartment of Pediatrics, University of Michigan, Ann Arbor, Michigan.
Patricia WengDepartment of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.ORCID 0000-0003-2020-2729
Tarak SrivastavaChildren's Mercy Hospital and University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.ORCID 0000-0002-8654-0627
Michael E SeifertDepartment of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.ORCID 0000-0002-0557-6178
Cozumel PruetteJohns Hopkins Pediatrics, Johns Hopkins University School of Medicine, Rubenstein Child Health Building Suite 3057, 200 N Wolfe St, Baltimore, MD, 21287, USA.ORCID 0000-0003-4253-9242
David SelewskiDepartment of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.ORCID 0000-0003-0358-0760
Keisha GibsonDepartment of Pediatrics and Medicine, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, US.ORCID 0000-0003-4702-8150
Tracy HunleyDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.ORCID 0000-0002-8766-551X
Asiri AbeyagunawardenaDepartment of Pediatrics, University of Peradeniya, Peradeniya, Sri Lanka.ORCID 0000-0001-9540-5032
Shenal ThalgahagodaDepartment of Pediatrics, University of Peradeniya, Peradeniya, Sri Lanka.
Arvind BaggaDepartment of Pediatrics, Division of Nephrology, All India Institute of Medical Science, Ansari Nagar, New Delhi, India.ORCID 0000-0002-7832-684X
Aditi SinhaDepartment of Pediatrics, Division of Nephrology, All India Institute of Medical Science, Ansari Nagar, New Delhi, India.ORCID 0000-0002-9566-3370
Nicholas WebbDepartment of Pediatric Nephrology, University of Manchester, Manchester, UK.ORCID 0000-0001-8572-5446
Larry GreenbaumDivision of Pediatric Nephrology, Department of Pediatrics, Emory University and Children's Healthcare of Atlanta, Atlanta, Georgia.ORCID 0000-0002-2490-021X
Ali GharaviDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York.ORCID 0000-0003-2801-233X
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York.ORCID 0000-0002-5047-6715
Mathias KretzlerDivision of Nephrology, Department of Medicine, University of Michigan, Ann Arbor, Michigan.ORCID 0000-0003-4064-0582
Lisa Guay-WoodfordResearch Institute and Department of Pediatrics, Divisions of Nephrology and Genetics, Children's Hospital of Philadelphia, Philadelphia, PA.ORCID 0000-0002-6187-3927
Simone Sanna-CherchiDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York.ORCID 0000-0002-6185-948X
Agnieszka BierzynskaDepartment of Pediatric Nephrology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Upper Maudlin Street, Bristol BS2 8BJ, UK.ORCID 0000-0002-7878-6096
Ania KoziellDepartment of Pediatric Nephrology, Evelina Children's Hospital, London, UK.
Gavin WelshDepartment of Pediatric Nephrology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Upper Maudlin Street, Bristol BS2 8BJ, UK.ORCID 0000-0002-2148-6658
Moin SaleemDepartment of Pediatric Nephrology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Upper Maudlin Street, Bristol BS2 8BJ, UK.ORCID 0000-0002-9808-4518
Charles RotimiCenter for Research for Genomics and Global Health, National Human Genome Research Institute, Bethesda, Maryland, USA.ORCID 0000-0001-5759-053X
Eileen ChambersDepartment of Pediatrics and Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC.ORCID 0000-0001-7060-9311
Cliburn ChanComputational Biology and Bioinformatics Program, Duke University, Durham, North Carolina, USA.ORCID 0000-0001-5901-6806
CureGN Consortium
PNRC Glomerular disease group
CIBMTR/NMDP Consortium
Annette JacksonDepartment of Surgery and Immunology, Duke University School of Medicine, Durham, NC.ORCID 0000-0003-2648-2944
Adebowale AdeyemoCenter for Research for Genomics and Global Health, National Human Genome Research Institute, Bethesda, Maryland, USA.ORCID 0000-0002-3105-3231
Rasheed GbadegesinDepartment of Pediatrics and Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC.ORCID 0000-0001-5641-6644

Funding

New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6M
Genetic epidemiology of complex diseasesZIAHG200362 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ROTIMI, CHARLES · 2009 to 2025
$54.7M
CureGNU24DK100845 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI CRYSTAL A. GADEGBEKU, Laura H Mariani · 2019 to 2026
$12.1M
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
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
Intramural NIH HHS ZIA HG200362NHGRI NIH HHS UM1 HG008901NIAID NIH HHS U01 AI152585NIDDK NIH HHS U01 DK100846NIDDK NIH HHS U01 DK100866NIDDK NIH HHS U01 DK100867NIDDK NIH HHS U24 DK100845
6 · The paper itself

Abstract

Introduction: Nephrotic syndrome (NS), a common glomerular disease in children, is classified based on response to corticosteroid therapy as either steroid-sensitive nephrotic syndrome (SSNS), or steroid-resistant nephrotic syndrome (SRNS). However, there are currently no reliable predictors of therapy response at initial clinical presentation. Methods: We conducted genome-wide association studies, developed polygenic risk scores (PRS) for therapy response and analyzed classical HLA alleles in 1,997 (994 discovery and 1,003 replication/validation cohorts) previously unstudied children with NS and 3,558 ancestry-matched controls. Results: A significant association with HLA loci defined by variants in Conclusions: Our findings confirm that SSNS (unlike SRNS) is an immune-mediated HLA-associated disorder. The PRS for therapy response and HLA haplotype can serve as biomarkers and provide a foundation for more accurate diagnoses and tailored and individualized treatment.

Indexed as

HLA haplotypeNephrotic syndromepolygenic risk scoretherapy response

Identifiers

PMID40970117
PMCPMC12443051

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.