ArticleKidney international2020
Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.
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Article in Kidney international, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
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34citing papers in PubMed, 2 pooled it
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34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 65 citations in OpenAlex.
- Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.Nature communications · 2023Pooled it
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- 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
- Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2026Article
- Polygenic risk scores and HLA class II variants are biomarkers of corticosteroid response in childhood nephrotic syndrome.Kidney international · 2026Article
- Opportunities and challenges in recurrent diffuse podocytopathy post-transplantation: the critical value of the definition.Frontiers in immunology · 2026Review
- 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
- A Novel NPHS1-Associated Phenotype Characterized by Recurrent Transient Proteinuria.Case reports in nephrology · 2026Article
- Transcriptomic study of WSSV infection in Litopenaeus vannamei lymphoid organ via single nuclei RNA sequencing.PloS one · 2026Article
- Co-localization of IgG with nephrin in immune-mediated idiopathic nephrotic syndrome.Clinical and experimental nephrology · 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
- Genetic aspects of pediatric nephrotic syndrome and anti-nephrin antibodies.Clinical and experimental nephrology · 2025Review
- Amino acid variants in the HLA-DQA1 and HLA-DQB1 molecules explain the major association of variants with relapse status in pediatric patients with steroid-sensitive nephrotic syndrome.Italian journal of pediatrics · 2025Article
- Post-transplant glomerular diseases: update on pathophysiology, risk factors and management strategies.Clinical kidney journal · 2024Review
- Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.Scientific reports · 2024Article
- Anti-nephrin antibodies in steroid-sensitive nephrotic syndrome in Japanese children.Pediatric nephrology (Berlin, Germany) · 2024Article
- Common Risk Variants inKidney international reports · 2023Article
- Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.Pediatric nephrology (Berlin, Germany) · 2023Review
- Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2023Article
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Authors and funding
49 authors at 20 institutions in 6 countries.
Xiaoyuan JiaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Tomohiko YamamuraDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Rasheed GbadegesinDepartment of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA.
Michelle T McNultyDepartment of Medicine-Nephrology, Boston Children's Hospital, Boston, Massachussetts, USA; Medical and Population Genetics, Broad Institute, Cambridge, Massachussetts, USA.
Kyuyong SongDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
China NaganoDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Yuki HitomiDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Dongwon LeeDepartment of Medicine-Nephrology, Boston Children's Hospital, Boston, Massachussetts, USA; Medical and Population Genetics, Broad Institute, Cambridge, Massachussetts, USA; Harvard Medical School, Boston, Massachussetts, USA.
Yoshihiro AibaClinical Research Center, National Hospital Organization Nagasaki Medical Center, Omura, Japan.
Seik-Soon KhorDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Kazuko UenoDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Yosuke KawaiDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Masao NagasakiDepartment of Integrative Genomics, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
Eisei NoiriDepartment of Hemodialysis and Apheresis, The University of Tokyo Hospital, Tokyo, Japan.
Tomoko HorinouchiDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Hiroshi KaitoDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Nephrology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
Riku HamadaDepartment of Nephrology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Takayuki OkamotoDepartment of Pediatrics, Hokkaido University Hospital, Sapporo, Japan.
Koichi KameiDivision of Nephrology and Rheumatology, National Center for Child Health and Development, Tokyo, Japan.
Yoshitsugu KakuDepartment of Nephrology, Fukuoka Children's Hospital, Fukuoka, Japan.
Rika FujimaruDepartment of Pediatrics, Osaka City General Hospital, Osaka, Japan.
Ryojiro TanakaDepartment of Nephrology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
Yuko ShimaDepartment of Pediatrics, Wakayama Medical University, Wakayama, Japan.
Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan
Jiwon BaekDepartment of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul, Korea.
Hee Gyung KangDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Il-Soo HaDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Kyoung Hee HanDepartment of Pediatrics, Jeju National University School of Medicine, Jeju, Korea.
Eun Mi YangDepartment of Pediatrics, Chonnam National University Children's Hospital, Gwangju, Korea.
Korean Consortium of Hereditary Renal Diseases in Children
Asiri AbeyagunawardenaDepartment of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA.
Brandon LaneDepartment of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA.
Megan Chryst-StanglDepartment of Pediatrics, Division of Nephrology, Duke University Medical Center, Durham, North Carolina, USA.
Christopher EsezoborDepartment of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria.
Adaobi SolarinDepartment of Pediatrics, Lagos State University Teaching Hospital, Ikeja, Nigeria.
Midwest Pediatric Nephrology Consortium (Genetics of Nephrotic Syndrome Study Group)
Claire DossierDepartment of Paediatric Nephrology, Public Assistance Hospital of Paris, Robert-Debré Hospital, Paris, France.
Georges DeschênesCenter of Research on Inflammation, Institut National de la Santé et de la Recherche Médicale UMR 1149, University Sorbonne-Paris, Paris, France.
NEPHROVIR
Marina VivarelliDivision of Nephrology and Dialysis, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
Hanna DebiecSorbonne University, INSERM UMR_S1155, and Nephrology Day Hospital, Department of Nephrology, Hôpital Tenon, Paris France.
Kenji IshikuraDivision of Nephrology and Rheumatology, National Center for Child Health and Development, Tokyo, Japan.
Masafumi MatsuoResearch Center for Locomotion Biology, Kobe Gakuin University, Kobe, Japan; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan.
Kandai NozuDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
Pierre RoncoSorbonne University, INSERM UMR_S1155, and Nephrology Day Hospital, Department of Nephrology, Hôpital Tenon, Paris France.
Hae Il CheongDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
Matthew G SampsonDepartment of Medicine-Nephrology, Boston Children's Hospital, Boston, Massachussetts, USA; Medical and Population Genetics, Broad Institute, Cambridge, Massachussetts, USA; Harvard Medical School, Boston, Massachussetts, USA.
Katsushi TokunagaDepartment of Human Genetics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan. Electronic address: katokunaga@ri.ncgm.go.jp.
Kazumoto IijimaDepartment of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: iijima@med.kobe-u.ac.jp.
Tohoku University · JPKobe University · JPSeoul National University Children's Hospital · KRKobe Children's Hospital · JPThe University of Tokyo · JPNational Center For Child Health and Development · JPDuke Medical Center · USInserm · FRChonnam National University Hospital · KRBroad Institute · USJeju National University · KRTokyo Metropolitan Children's Medical Center · JPWakayama Medical University · JPFukuoka Children's Hospital and Medical Center for Infectious Diseases · JPHokkaido University Hospital · JPOsaka City General Hospital · JPUlsan College · KRBambino Gesù Children's Hospital · ITCentre de Recherche sur l'Inflammation · FRHôpital Robert-Debré · FR
Funding
Training Program in Clinical & Translationa Research in Human Glomerular DiseaseU54DK083912 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI KRETZLER, MATTHIAS · 2009 to 2023
$20.3MAPOL1 - associated nephropathy from human-derived, intrarenal perspectiveR01DK108805 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MATTHEW Gordon SAMPSON, Simone Sanna-Cherchi · 2016 to 2026
$3.4MGene Discovery in Autosomal Dominant Focal Segmental GlomerulosclerosisR01DK094987 · NIDDK · DUKE UNIVERSITY · PI GBADEGESIN, RASHEED ADEBAYO · 2012 to 2016
$2.5MFunctional and Phenotypic Characterization of a New FSGS GeneR01DK098135 · NIDDK · DUKE UNIVERSITY · PI GBADEGESIN, RASHEED ADEBAYO · 2014 to 2018
$1.8MNIDDK NIH HHS R01 DK094987NIDDK NIH HHS R01 DK098135NIDDK NIH HHS R01 DK108805NIDDK NIH HHS U54 DK083912
Abstract
To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations in the HLA-DR/DQ region, common variants in NPHS1-KIRREL2 (rs56117924, P=4.94E-20, odds ratio (OR) =1.90) and TNFSF15 (rs6478109, P=2.54E-8, OR=0.72) regions achieved genome-wide significance and were replicated in Korean, South Asian and African populations. Trans-ethnic meta-analyses including Japanese, Korean, South Asian, African, European, Hispanic and Maghrebian populations confirmed the significant associations of variants in NPHS1-KIRREL2 (P
Indexed as
Nephrotic SyndromeAllelesChildGenome-Wide Association StudyHaplotypesHumansMembrane ProteinsMutationSteroidsTumor Necrosis Factor Ligand Superfamily Member 15Membrane ProteinsnephrinSteroidsTNFSF15 protein, humanTumor Necrosis Factor Ligand Superfamily Member 15glomerulusnephrotic syndromepediatric nephrologypodocyte
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