Evidence map›Paper›PMID 31263063›Full record

ArticleJournal of the American Society of Nephrology : JASN2019

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome.

Stephanie Dufek, Chris Cheshire, Adam P Levine, Richard S Trompeter, Naomi Issler, Matthew Stubbs, Monika Mozere, Sanjana Gupta, Enriko Klootwijk, Vaksha Patel and 25 more

Open access · bronzeAbstract read
In one paragraph

Article in Journal of the American Society of Nephrology : JASN, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 2 pooled it
4.6field-weighted citation impact, top 4% 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

33 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.

  1. Pooled it
  2. Guideline
  3. Article
  4. 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 · 2026
    Article
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  9. Review
  10. Renal insufficiency caused byFrontiers in medicine · 2025
    Article
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  12. Common Risk Variants inKidney international reports · 2023
    Article
  13. Review
  14. Article
  15. Article
  16. Article
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  18. Article
  19. Review
  20. Review
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

35 authors at 10 institutions in 6 countries.

Stephanie DufekDepartment of Renal Medicine and.
Chris CheshireDepartment of Renal Medicine and.
Adam P LevineDepartment of Renal Medicine and.
Richard S TrompeterDepartment of Renal Medicine and.
Naomi IsslerDepartment of Renal Medicine and.
Matthew StubbsDepartment of Renal Medicine and.
Monika MozereDepartment of Renal Medicine and.
Sanjana GuptaDepartment of Renal Medicine and.
Enriko KlootwijkDepartment of Renal Medicine and.
Vaksha PatelGreat Ormond Street Hospital, London, United Kingdom.
Daljit HothiGreat Ormond Street Hospital, London, United Kingdom.
Aoife WatersGreat Ormond Street Hospital, London, United Kingdom.
Hazel WebbGreat Ormond Street Hospital, London, United Kingdom.
Kjell TullusGreat Ormond Street Hospital, London, United Kingdom.
Lucy JenkinsGreat Ormond Street Hospital, London, United Kingdom.
Lighta GodinhoGreat Ormond Street Hospital, London, United Kingdom.
Elena LevtchenkoUniversity Hospitals Leuven and University of Leuven, Leuven, Belgium.
Jack WetzelsNephrology, Radboud University Medical Center, Nijmegen, The Netherlands.
Nine KnoersDepartment of Genetics, UMC Groningen, Groningen, The Netherlands.
Nynke TeeningaDepartment of Pediatric Nephrology, Erasmus University Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.
Jeroen NautaDepartment of Pediatric Nephrology, Erasmus University Medical Centre-Sophia Children's Hospital, Rotterdam, The Netherlands.
Mohamed ShalabyPediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Sherif EldesokyPediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Jameela A KariPediatric Nephrology Center of Excellence, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia.
Shenal ThalgahagodaDepartment of Paediatrics, University of Peradeniya, Peradeniya, Sri Lanka.
Randula RanawakaDepartment of Paediatrics, University of Peradeniya, Peradeniya, Sri Lanka.
Asiri AbeyagunawardenaDepartment of Paediatrics, University of Peradeniya, Peradeniya, Sri Lanka.
Adebowale AdeyemoNHGRI, National Institutes of Health, Bethesda, Maryland.
Mark KristiansenUniversity College London Genomics, Institute of Child Health, University College London, London, United Kingdom.
Rasheed GbadegesinDepartment of Pediatrics, Duke University School of Medicine, Durham, North Carolina; and.ORCID 0000-0001-5641-6644
Nicholas J WebbDepartment of Paediatric Nephrology and.
Daniel P GaleDepartment of Renal Medicine and.ORCID 0000-0002-9170-1579
Horia C StanescuDepartment of Renal Medicine and.
Robert KletaDepartment of Renal Medicine and r.kleta@ucl.ac.uk d.bockenhauer@ucl.ac.uk.ORCID 0000-0002-0228-8656
Detlef BockenhauerDepartment of Renal Medicine and r.kleta@ucl.ac.uk d.bockenhauer@ucl.ac.uk.ORCID 0000-0001-5878-941X
Great Ormond Street Hospital · GBKing Abdulaziz University · SAUniversity of Peradeniya · LKErasmus MC - Sophia Children’s Hospital · NLDuke University · USGenomics England · GBKU Leuven · BEManchester Academic Health Science Centre · GBNational Institutes of Health · USRadboud University Nijmegen · NL

Funding

Gene Discovery in Autosomal Dominant Focal Segmental GlomerulosclerosisR01DK094987 · NIDDK · DUKE UNIVERSITY · PI GBADEGESIN, RASHEED ADEBAYO · 2012 to 2016
$2.5M
Functional and Phenotypic Characterization of a New FSGS GeneR01DK098135 · NIDDK · DUKE UNIVERSITY · PI GBADEGESIN, RASHEED ADEBAYO · 2014 to 2018
$1.8M
Department of HealthMedical Research Council G1002528NIDDK NIH HHS R01 DK094987NIDDK NIH HHS R01 DK098135
6 · The paper itself

Abstract

backgroundSteroid-sensitive nephrotic syndrome (SSNS), the most common form of nephrotic syndrome in childhood, is considered an autoimmune disease with an established classic HLA association. However, the precise etiology of the disease is unclear. In other autoimmune diseases, the identification of loci outside the classic HLA region by genome-wide association studies (GWAS) has provided critical insights into disease pathogenesis. Previously conducted GWAS of SSNS have not identified non-HLA loci achieving genome-wide significance.

methodsIn an attempt to identify additional loci associated with SSNS, we conducted a GWAS of a large cohort of European ancestry comprising 422 ethnically homogeneous pediatric patients and 5642 ethnically matched controls.

resultsThe GWAS found three loci that achieved genome-wide significance, which explain approximately 14% of the genetic risk for SSNS. It confirmed the previously reported association with the HLA-DR/DQ region (lead single-nucleotide polymorphism [SNP] rs9273542,

conclusionsBecause

Indexed as

AllelesAndrogen-Binding ProteinCalcium ChannelsChildDatabases, FactualEpitopesFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHLA-DQ alpha-ChainsHLA-DQ beta-ChainsHLA-DRB1 ChainsHumansImmune SystemMaleAndrogen-Binding ProteinCalcium ChannelsCALHM6 protein, humanEpitopesHLA-DQ alpha-ChainsHLA-DQ beta-ChainsHLA-DRB1 ChainsMembrane GlycoproteinsPARM1 protein, humanPeptidesSteroidsCALHM6FAM26FGWASHLASSNS

Identifiers

PMID31263063
PMCPMC6683715
OpenAlexW2955478548

What OpenQuestion holds

Textmetadata
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 OpenQuestion graph.