SynthesisNature communications2023
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
8.3field-weighted citation impact, top 2% of its field
What it found
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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.
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.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Identification ofFrontiers in immunology · 2026Pooled it
- Proteome-wide Mendelian randomization identifies APOM and TNXB as actionable mediators of steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Novel immune-related susceptibility loci associated with pediatric steroid-sensitive nephrotic syndrome identified by a transethnic genome-wide association study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- Atlas of glomerular disease-specific genetic effects on blood transcriptome.medRxiv : the preprint server for health sciences · 2026Article
- Polygenic risk scores and HLA class II variants are biomarkers of corticosteroid response in childhood nephrotic syndrome.Kidney international · 2026Article
- Recent key advances in the understanding of the pathogenesis of childhood minimal change disease.Childhood kidney diseases · 2026Review
- Nephrotic Syndrome: Current Management.Indian journal of pediatrics · 2026Review
- Article
- Polygenic risk score from steroid-sensitive nephrotic syndrome GWAS indicates overlapping genetic basis with steroid-resistant cases.Scientific reports · 2026Article
- Aligning Practice With Guidelines: A Canadian National Survey and Canadian Society of Nephrology Commentary on the 2025 KDIGO Pediatric Nephrotic Syndrome Recommendations.Canadian journal of kidney health and disease · 2026Article
- Opportunities and challenges in recurrent diffuse podocytopathy post-transplantation: the critical value of the definition.Frontiers in immunology · 2026Review
- Podocytopathies.Nature reviews. Disease primers · 2025Review
- Novel variants in ARID1B, SPSB1, and RAET1-AS shape genetic susceptibility and protection in systemic lupus erythematosus and lupus nephritis.Journal of translational autoimmunity · 2025Article
- Co-localization of IgG with nephrin in immune-mediated idiopathic nephrotic syndrome.Clinical and experimental nephrology · 2025Article
- RNA Alternative Splicing and Polyadenylation and Regulation of the Glomerular Filtration Barrier.Journal of the American Society of Nephrology : JASN · 2025Article
- Polygenic Risk Scores and HLA Class II Variants are Biomarkers of Corticosteroid Response in Childhood Nephrotic Syndrome.medRxiv : the preprint server for health sciences · 2025Article
- Childhood idiopathic nephrotic syndrome: recent advancements shaping future guidelines.Pediatric nephrology (Berlin, Germany) · 2025Review
- clusIBD: Robust Detection of Identity-by-descent Segments Using Unphased Genetic Data from Poor-quality Samples.Genomics, proteomics & bioinformatics · 2025Article
- Genetic aspects of pediatric nephrotic syndrome and anti-nephrin antibodies.Clinical and experimental nephrology · 2025Review
- MicroRNAs in idiopathic childhood nephrotic syndrome.Clinical and experimental nephrology · 2025Article
Corrections and comments
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Authors and funding
70 authors at 20 institutions in 17 countries.
Alexandra Barry *Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.
Michelle T McNulty *Division of Nephrology, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-2080-0940
Xiaoyuan Jia *Genome Medical Science Project (Toyama), National Center for Global Health and Medicine (NCGM), Tokyo, Japan.
Yask Gupta *Division of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Hanna Debiec *Sorbonne Université, UPMC Paris 06, Institut National de la Santé et de la Recherde Médicale, Unité Mixte de Rechereche, S 1155, Paris, France.
Yang LuoKennedy Institute of Rheumatology, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7FY, United Kingdom.ORCID 0000-0001-7385-6166
China NaganoDivision of Nephrology, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0003-4946-1345
Tomoko HorinouchiDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.ORCID 0000-0003-1655-6030
Seulgi JungDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Songpa-gu, Seoul, Korea.ORCID 0000-0002-7264-4310
Manuela ColucciRenal Diseases Research Unit, Genetics and Rare Diseases Research Division, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Dina F AhramDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Adele MitrottiDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Aditi SinhaDepartment of Pediatrics, AIIMS, New Delhi, India.
Nynke TeeningaDepartment of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
Gina JinDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Shirlee ShrilDepartment of Medicine, Boston Children's Hospital, Boston, MA, USA.
Gianluca CaridiLaboratory on Molecular Nephrology, IRCCS Instituto Giannina Gaslini, Genoa, Italy.ORCID 0000-0001-6700-3001
Monica BodriaDepartment of Nephrology and Renal Transplantation, IRCCS Instituto Giannina Gaslini, Genoa, Italy.
Tze Y LimDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Rik WestlandDepartment of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.ORCID 0000-0003-4960-4078
Francesca ZanoniDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Maddalena MarasaDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.ORCID 0000-0003-0712-2329
Daniel TurudicDepartment of Pediatric Nephrology, Dialysis and Transplantation, Clinical Hospital Hospital Center Zagreb, University of Zagreb Medical School, Zagreb, Croatia.
Mario GiordanoDivision of Nephrology and Pediatric Dialysis, Bari Polyclinic Giovanni XXIII Children's Hospital, Bari, Italy.
Loreto GesualdoNephrology, Dialysis and Transplantation Unit, Department of Emergency and Organ Transplantation, University of Bari Aldo Moro, Bari, Italy.
Riccardo MagistroniDepartment of Nephrology, Dialysis and Transplant Unit, University Hospital of Modena, Modena, Italy.ORCID 0000-0002-3319-0248
Isabella PisaniUnità Operativa Nefrologia, Azienda Ospedaliero-Universitaria di Parma, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy.
Enrico FiaccadoriUnità Operativa Nefrologia, Azienda Ospedaliero-Universitaria di Parma, Dipartimento di Medicina e Chirurgia, Università di Parma, Parma, Italy.
Jana ReiterovaDepartment of Nephrology, Medicine and General University Hospital, Charles University, Prague, Czech Republic.
Silvio MaringhiniDepartment of Pediatrics, ISMETT, Palermo, Italy.
William MorelloPediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.ORCID 0000-0002-4833-4128
Giovanni MontiniPediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milano, Italy.ORCID 0000-0002-7350-4475
Patricia L WengDepartment of Pediatric Nephrology, UCLA Medical Center and UCLA Medical Center-Santa Monica, Los Angeles, CA, USA.
Francesco ScolariDepartment of Medical and Surgical Specialties, Radiological Sciences, and Public Health, Division of Nephrology and Dialysis, University of Brescia and ASST Spedali Civili of Brescia, Brescia, Italy.
Marijan SaragaDepartment of Pediatrics, University of Split, Split, Croatia.
Velibor TasicDepartment of Pediatric Nephrology, University Children's Hospital, Skopje, Macedonia.ORCID 0000-0002-3377-1245
Domenica SantoroDivision of Nephrology and Dialysis Unit, University of Messina, Sicily, Italy.
Joanna A E van WijkDepartment of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.
Danko MiloševićDepartment of Pediatric Nephrology, Dialysis and Transplantation, Clinical Hospital Hospital Center Zagreb, University of Zagreb Medical School, Zagreb, Croatia.
Yosuke KawaiGenome Medical Science Project (Toyama), National Center for Global Health and Medicine (NCGM), Tokyo, Japan.ORCID 0000-0003-0666-1224
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.
Martin R PollakDivision of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Ali GharaviDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.ORCID 0000-0003-2801-233X
Fangmin LinDepartment of Pediatric, Division of Pediatric Nephrology, Columbia University Irving Medical Center New York-Presbyterian Morgan Stanley Children's Hospital in New York, New York, NY, USA.ORCID 0000-0003-0858-5472
Ana Cristina Simœs E SilvaDepartment of Pediatrics, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais, Belo Horizonte, Brazil.ORCID 0000-0001-9222-3882
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-8532-5087
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Michiel F SchreuderDepartment of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0001-9725-4856
Aleksandra ZurowskaDepartment of Pediatrics, Nephrology and Hypertension, Medical University Gdansk, Gdansk, Poland.
Claire DossierAP-HP, Pediatric Nephrology Department, Hôpital Robert-Debré, Paris, France.
Gema AricetaPediatric Nephrology, Hospital Universitari Vall d'Hebron, Universitat Autónoma de Barcelona, Barcelona, Spain.ORCID 0000-0003-1763-1098
Magdalena Drozynska-DuklasDepartment of Pediatrics, Nephrology and Hypertension, Medical University Gdansk, Gdansk, Poland.
Julien HoganAP-HP, Pediatric Nephrology Department, Hôpital Robert-Debré, Paris, France.
Augustina JankauskieneInstitute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Friedhelm HildebrandtDivision of Nephrology, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-7130-0030
Larisa PrikhodinaResearch and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, Taldomskava St, 2, Moscow, Russia.ORCID 0000-0002-0702-4932
Kyuyoung SongDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Songpa-gu, Seoul, Korea.ORCID 0000-0003-3067-0139
Arvind BaggaDepartment of Pediatrics, AIIMS, New Delhi, India.
Hae CheongDepartment of Pediatrics, Hallym University Sacred Heart Hospital, 22, Gwanpyeong-ro 170 beon-gil, Dongan-gu, Anyang-si, Gyeonggi-do, 14068, Korea.ORCID 0000-0001-7556-1265
Gian Marco GhiggeriDepartment of Nephrology and Renal Transplantation, IRCCS Instituto Giannina Gaslini, Genoa, Italy.ORCID 0000-0003-3659-9062
Prayong VachvanichsanongDepartment of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat-Yai, Songkhla, 90110, Thailand.
Kandai NozuDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.ORCID 0000-0002-0290-3137
Dongwon LeeDivision of Nephrology, Boston Children's Hospital, Boston, MA, USA.ORCID 0000-0002-1568-2249
Marina VivarelliDivision of Nephrology, and Dialysis, Department of Pediatric Subspecialities, Istituto di Ricovero e Cura a Carattere Scientifico Ospedale Pediatrico Bambino Gesù, Rome, Italy.ORCID 0000-0002-2448-1959
Soumya RaychaudhuriCenter for Data Sciences, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-1901-8265
Katsushi TokunagaGenome Medical Science Project (Toyama), National Center for Global Health and Medicine (NCGM), Tokyo, Japan.ORCID 0000-0001-5501-0503
Simone Sanna-CherchiDivision of Nephrology, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA.ORCID 0000-0002-6185-948X
Pierre RoncoSorbonne Université, UPMC Paris 06, Institut National de la Santé et de la Recherde Médicale, Unité Mixte de Rechereche, S 1155, Paris, France.ORCID 0000-0002-0280-6900
Kazumoto IijimaHyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
Matthew G SampsonDivision of Nephrology, Boston Children's Hospital, Boston, MA, USA. matthew.sampson@childrens.harvard.edu.ORCID 0000-0001-9560-076X
Columbia University · USBroad Institute · USIstituto Giannina Gaslini · ITNational Center for Global Health and Medicine · JPAll India Institute of Medical Sciences Raipur · INAmsterdam UMC Location Vrije Universiteit Amsterdam · NLAssistance Publique – Hôpitaux de Paris · FRBambino Gesù Children's Hospital · ITBoston Children's Hospital · USGdańsk Medical University · PLKobe University · JPMorgan Stanley Children's Hospital · USOspedale di Parma · ITRadboud University Nijmegen · NLSorbonne Université · FRUlsan College · KRUniversity of Bari Aldo Moro · ITCharles University · CZChildren's Clinical University Hospital · LVCroatian Academy of Sciences and Arts · HR
Funding
Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0MThe 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
$51.2MTraining Program in Clinical & Translationa Research in Human Glomerular DiseaseU54DK083912 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HOLZMAN, LAWRENCE B. · 2009 to 2023
$20.3MIntegrating large scale genomics and functional studies to accelerate FSGS/NS discoveryRC2DK122397 · NIDDK · BETH ISRAEL DEACONESS MEDICAL CENTER · PI HILDEBRANDT, FRIEDHELM, POLLAK, MARTIN R. · 2020 to 2024
$7.4MDiscovery and Functional Impact of Common and Rare Variants in RAR01AR063759 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Soumya Raychaudhuri · 2013 to 2026
$5.4MIdentification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3MWhole Genome Sequencing for Nephrotic Syndrome DiscoveryR01DK119380 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI Dongwon Lee, MATTHEW Gordon SAMPSON · 2019 to 2026
$3.7MNCATS NIH HHS U2C TR002818NCATS NIH HHS UL1 TR001873NIAMS NIH HHS R01 AR063759NIDDK NIH HHS R01 DK076683NIDDK NIH HHS R01 DK119380NIDDK NIH HHS RC2 DK122397NIDDK NIH HHS U54 DK083912
Abstract
Pediatric steroid-sensitive nephrotic syndrome (pSSNS) is the most common childhood glomerular disease. Previous genome-wide association studies (GWAS) identified a risk locus in the HLA Class II region and three additional independent risk loci. But the genetic architecture of pSSNS, and its genetically driven pathobiology, is largely unknown. Here, we conduct a multi-population GWAS meta-analysis in 38,463 participants (2440 cases). We then conduct conditional analyses and population specific GWAS. We discover twelve significant associations-eight from the multi-population meta-analysis (four novel), two from the multi-population conditional analysis (one novel), and two additional novel loci from the European meta-analysis. Fine-mapping implicates specific amino acid haplotypes in HLA-DQA1 and HLA-DQB1 driving the HLA Class II risk locus. Non-HLA loci colocalize with eQTLs of monocytes and numerous T-cell subsets in independent datasets. Colocalization with kidney eQTLs is lacking but overlap with kidney cell open chromatin suggests an uncharacterized disease mechanism in kidney cells. A polygenic risk score (PRS) associates with earlier disease onset. Altogether, these discoveries expand our knowledge of pSSNS genetic architecture across populations and provide cell-specific insights into its molecular drivers. Evaluating these associations in additional cohorts will refine our understanding of population specificity, heterogeneity, and clinical and molecular associations.
Indexed as
Genome-Wide Association StudyNephrotic SyndromeChildGenetic Predisposition to DiseaseHaplotypesHumansPolymorphism, Single NucleotideRisk Factors
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