Evidence map›Paper›PMID 36352089›Full record

ArticleCommunications biology2022

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.

Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S Woolf, Markus Eckstein, Alina C Hilger, Gabriel C Dworschak, Wolfgang Rösch and 56 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.8field-weighted citation impact, top 16% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

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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

66 authors at 20 institutions in 6 countries.

Enrico Mingardo *Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany. enming@uni-bonn.de.
Glenda Beaman *Centre for Genomic Medicine, University of Manchester, Manchester, UK.
Philip Grote *Institute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe University, Frankfurt am Main, Germany.ORCID 0000-0002-9254-1458
Agneta NordenskjöldDepartment of Women´s and Children´s Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
William NewmanCentre for Genomic Medicine, University of Manchester, Manchester, UK.ORCID 0000-0002-6382-4678
Adrian S WoolfDivision of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.ORCID 0000-0001-5541-1358
Markus EcksteinInstitute of Pathology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.ORCID 0000-0001-5418-3349
Alina C HilgerInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.
Gabriel C DworschakInstitute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany.ORCID 0000-0003-0015-6964
Wolfgang RöschDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany.
Anne-Karolin EbertDepartment of Urology and Pediatric Urology, University Hospital of Ulm, Ulm, Germany.
Raimund SteinCenter for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany.
Alfredo BruscoDepartment of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy.ORCID 0000-0002-8318-7231
Massimo Di GraziaInstitute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy.ORCID 0000-0002-1302-7785
Ali TamerInstitute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe University, Frankfurt am Main, Germany.
Federico M TorresTranslational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain.ORCID 0000-0002-9023-581X
Jose L HernandezDepartment of Internal Medicine, Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain.
Philipp ErbenBRIDGE-Consortium Germany e.V., Mannheim, Germany.
Carlo MajInstitute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.ORCID 0000-0002-9559-1725
Jose M OlmosDepartment of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain.
Jose A RianchoDepartment of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain.
Carmen ValeroDepartment of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain.
Isabel C HostettlerStroke Research Centre, University College London, Institute of Neurology, London, UK.ORCID 0000-0002-9004-2540
Henry HouldenNeurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery, London, UK.ORCID 0000-0002-2866-7777
David J WerringStroke Research Center, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.ORCID 0000-0003-2074-1861
Johannes SchumacherInstitute for Human Genetics, University of Marburg, Marburg, Germany.
Jan GehlenInstitute for Human Genetics, University of Marburg, Marburg, Germany.ORCID 0000-0001-8098-8378
Ann-Sophie GielInstitute for Human Genetics, University of Marburg, Marburg, Germany.
Benedikt C BuerfentInstitute for Human Genetics, University of Marburg, Marburg, Germany.ORCID 0000-0002-3739-6112
Samara ArkaniDepartment of Women's and Children's Health and Center for Molecular Medicine, Bioclinicum, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-8339-4783
Elisabeth ÅkessonDivision of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Emilia RotsteinME Gynecology and Reproduction Medicine, Karolinska University Hospital, and Dept of Clintec, Karolinska Institutet, Stockholm, Sweden.
Michael LudwigDepartment of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany.
Gundela HolmdahlDepartment of Pediatric Surgery, Queen Silvia Children's Hospital, Gothenburg, Sweden.
Elisa GiorgioDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.
Alfredo BerettiniPediatric Urology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
David KeenePaediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Raimondo M CervellionePaediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Nina YounsiCenter for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany.
Melissa OrtliebDepartment of Urology and Pediatric Urology, University Hospital of Ulm, Ulm, Germany.
Josef OswaldDepartment for Pediatric Urology, Ordensklinikum Linz, Hospital of the Sisters of Charity, Linz, Austria.
Bernhard HaidCenter for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany.
Martin PrommDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany.
Claudia NeissnerDepartment of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany.
Karin HirschDivision of Pediatric Urology, Department of Urology, University of Erlangen-Nürnberg, Erlangen, Germany.
Maximilian StehrDepartment of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche Kinderklinik, Nürnberg, Germany.
Frank-Mattias SchäferDepartment of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche Kinderklinik, Nürnberg, Germany.
Eberhard SchmiedekeClinic for Paediatric Surgery and Paediatric Urology, Klinikum Bremen-Mitte, Bremen, Germany.
Thomas M BoemersDepartment of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany.
Iris A L M van RooijDepartment of Pediatric Surgery, University of Leipzig, Leipzig, Germany.
Wouter F J FeitzDepartment for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.
Carlo L M MarcelisDepartment of Urology, Pediatric Urology Center, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Martin LacherDepartment of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Jana NelsonDepartment of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
Benno UreCenter of Pediatric Surgery Hannover, Hannover Medical School, Hannover, Germany.
Caroline FortmannCenter of Pediatric Surgery Hannover, Hannover Medical School, Hannover, Germany.
Daniel P GaleDepartment of Renal Medicine, University College London, London, UK.ORCID 0000-0002-9170-1579
Melanie M Y ChanDepartment of Renal Medicine, University College London, London, UK.ORCID 0000-0003-1968-1734
Kerstin U LudwigInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.ORCID 0000-0002-8541-2519
Markus M NöthenInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.ORCID 0000-0002-8770-2464
Stefanie HeilmannInstitute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.ORCID 0000-0003-1057-465X
Nadine ZwinkDepartment of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
Ekkehart JenetzkyDepartment of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.ORCID 0000-0001-5415-8784
Benjamin OdermattInstitute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany.ORCID 0000-0002-9361-2772
Michael Knapp *Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany.
Heiko Reutter *Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany. Heiko.Reutter@uk-erlangen.de.ORCID 0000-0002-3591-5265
University of Bonn · DEFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHeidelberg University · DEPhilipps University of Marburg · DERadboud University Nijmegen · NLUniversidad de Cantabria · ESGoethe University Frankfurt · DEKarolinska University Hospital · SEMedizinische Hochschule Hannover · DENational Hospital for Neurology and Neurosurgery · GBRoyal Manchester Children's Hospital · GBUniversity College London · GBUniversity Hospital Ulm · DEUniversity of Manchester · GBCnopf´sche Kinderklinik · DEComplejo Hospitalario Universitario de Santiago · ESDanderyds sjukhus · SEDrottning Silvias barn- och ungdomssjukhus · SEFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico · ITIRCCS Materno Infantile Burlo Garofolo · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association analysis to date where we identify eight genome-wide significant loci, seven of which are novel. In these regions reside ten coding and four non-coding genes. Among the coding genes is EFNA1, strongly expressed in mouse embryonic genital tubercle, urethra, and primitive bladder. Re-sequence of EFNA1 in the investigated classic bladder exstrophy cohort of our study displays an enrichment of rare protein altering variants. We show that all coding genes are expressed and/or significantly regulated in both mouse and human embryonic developmental bladder stages. Furthermore, nine of the coding genes residing in the regions of genome-wide significance are differentially expressed in bladder cancers. Our data suggest genetic drivers for classic bladder exstrophy, as well as a possible role for these drivers to relevant bladder cancer susceptibility.

Indexed as

Bladder ExstrophyUrinary Bladder NeoplasmsAnimalsEphrin-A1Genome-Wide Association StudyHumansMiceTranscriptomeEphrin-A1

Identifiers

PMID36352089
PMCPMC9646906
OpenAlexW4308736428

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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.