Evidence map›Paper›PMID 36124557›Full record

ArticleeLife2022

Diverse ancestry whole-genome sequencing association study identifies

Melanie M Y Chan, Omid Sadeghi-Alavijeh, Filipa M Lopes, Alina C Hilger, Horia C Stanescu, Catalin D Voinescu, Glenda M Beaman, William G Newman, Marcin Zaniew, Stefanie Weber and 12 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
3.3field-weighted citation impact, top 7% 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

9 citing papers in PubMed, 18 citations in OpenAlex.

  1. Review
  2. The Genomic Infinity Loop.Journal of the American Society of Nephrology : JASN · 2026
    Article
  3. Genetics of CAKUT.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026
    Article
  4. Review
  5. Article
  6. Review
  7. Article
  8. Genetics of posterior urethral valves.Nature reviews. Nephrology · 2022
    Article
  9. Article
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

22 authors at 9 institutions in 4 countries.

Melanie M Y ChanDepartment of Renal Medicine, University College London, London, United Kingdom.ORCID 0000-0003-1968-1734
Omid Sadeghi-AlavijehDepartment of Renal Medicine, University College London, London, United Kingdom.
Filipa M LopesDivision of Cell Matrix Biology & Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
Alina C HilgerChildren's Hospital, University of Bonn, Bonn, Germany.
Horia C StanescuDepartment of Renal Medicine, University College London, London, United Kingdom.
Catalin D VoinescuDepartment of Renal Medicine, University College London, London, United Kingdom.ORCID 0000-0002-3636-8689
Glenda M BeamanManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
William G NewmanManchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
Marcin ZaniewDepartment of Pediatrics, University of Zielona Góra, Zielona Gora, Poland.
Stefanie WeberDepartment of Pediatric Nephrology, University of Marburg, Marburg, Germany.
Yee Mang HoDivision of Cell Matrix Biology & Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
John O ConnollyDepartment of Renal Medicine, University College London, London, United Kingdom.
Dan WoodDepartment of Adolescent Urology, University College London Hospitals NHS Foundation Trust, London, United Kingdom.
Carlo MajCenter for Human Genetics, University of Marburg, Marburg, Germany.
Alexander StuckeyGenomics England, Queen Mary University of London, London, United Kingdom.
Athanasios KousathanasGenomics England, Queen Mary University of London, London, United Kingdom.
Genomics England Research Consortium
Robert KletaDepartment of Renal Medicine, University College London, London, United Kingdom.
Adrian S WoolfDivision of Cell Matrix Biology & Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.ORCID 0000-0001-5541-1358
Detlef BockenhauerDepartment of Renal Medicine, University College London, London, United Kingdom.
Adam P LevineDepartment of Renal Medicine, University College London, London, United Kingdom.
Daniel P GaleDepartment of Renal Medicine, University College London, London, United Kingdom.ORCID 0000-0002-9170-1579
University College London · GBUniversity of Manchester · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBQueen Mary University of London · GBUniversity College London Hospitals NHS Foundation Trust · GBUniversity of Bonn · DEManchester Academic Health Science Centre · GBPhilipps University of Marburg · DEUniversity of Zielona Góra · PL

Funding

Medical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MR/M009203/1Medical Research Council MR/S021329/1Medical Research Council MR/T016809/1Wellcome Trust
6 · The paper itself

Abstract

Posterior urethral valves (PUV) are the commonest cause of end-stage renal disease in children, but the genetic architecture of this rare disorder remains unknown. We performed a sequencing-based genome-wide association study (seqGWAS) in 132 unrelated male PUV cases and 23,727 controls of diverse ancestry, identifying statistically significant associations with common variants at 12q24.21 (p=7.8 × 10

Indexed as

Genome-Wide Association StudyUrinary TractCell Adhesion MoleculesChildChromatinHumansMaleReceptor Protein-Tyrosine KinasesT-Box Domain ProteinsTranscription FactorsCell Adhesion MoleculesChromatinPTK7 protein, humanReceptor Protein-Tyrosine KinasesT-Box Domain ProteinsT-box transcription factor 5Transcription FactorsCAKUTdevelopmental biologygeneticsgenome-wide association studygenomicshumanposterior urethral valvesPUVseqGWASwhole-genome sequencing

Identifiers

PMID36124557
PMCPMC9512401
OpenAlexW4296309415

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.