Communications Biology (Nov 2022)
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,
- Anne-Karolin Ebert,
- Raimund Stein,
- Alfredo Brusco,
- Massimo Di Grazia,
- Ali Tamer,
- Federico M. Torres,
- Jose L. Hernandez,
- Philipp Erben,
- Carlo Maj,
- Jose M. Olmos,
- Jose A. Riancho,
- Carmen Valero,
- Isabel C. Hostettler,
- Henry Houlden,
- David J. Werring,
- Johannes Schumacher,
- Jan Gehlen,
- Ann-Sophie Giel,
- Benedikt C. Buerfent,
- Samara Arkani,
- Elisabeth Åkesson,
- Emilia Rotstein,
- Michael Ludwig,
- Gundela Holmdahl,
- Elisa Giorgio,
- Alfredo Berettini,
- David Keene,
- Raimondo M. Cervellione,
- Nina Younsi,
- Melissa Ortlieb,
- Josef Oswald,
- Bernhard Haid,
- Martin Promm,
- Claudia Neissner,
- Karin Hirsch,
- Maximilian Stehr,
- Frank-Mattias Schäfer,
- Eberhard Schmiedeke,
- Thomas M. Boemers,
- Iris A. L. M. van Rooij,
- Wouter F. J. Feitz,
- Carlo L. M. Marcelis,
- Martin Lacher,
- Jana Nelson,
- Benno Ure,
- Caroline Fortmann,
- Daniel P. Gale,
- Melanie M. Y. Chan,
- Kerstin U. Ludwig,
- Markus M. Nöthen,
- Stefanie Heilmann,
- Nadine Zwink,
- Ekkehart Jenetzky,
- Benjamin Odermatt,
- Michael Knapp,
- Heiko Reutter
Affiliations
- Enrico Mingardo
- Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn
- Glenda Beaman
- Centre for Genomic Medicine, University of Manchester
- Philip Grote
- Institute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe University
- Agneta Nordenskjöld
- Department of Women´s and Children´s Health and Center for Molecular Medicine, Karolinska Institutet
- William Newman
- Centre for Genomic Medicine, University of Manchester
- Adrian S. Woolf
- Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology Medicine and Health, School of Biological Sciences, University of Manchester
- Markus Eckstein
- Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg
- Alina C. Hilger
- Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn
- Gabriel C. Dworschak
- Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn
- Wolfgang Rösch
- Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg
- Anne-Karolin Ebert
- Department of Urology and Pediatric Urology, University Hospital of Ulm
- Raimund Stein
- Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University
- Alfredo Brusco
- Department of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino
- Massimo Di Grazia
- Institute for Maternal and Child Health, IRCCS Burlo Garofalo
- Ali Tamer
- Institute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe University
- Federico M. Torres
- Translational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago
- Jose L. Hernandez
- Department of Internal Medicine, Hospital U M Valdecilla, University of Cantabria, IDIVAL
- Philipp Erben
- BRIDGE-Consortium Germany e.V.
- Carlo Maj
- Institute of Genomic Statistics and Bioinformatics, University of Bonn
- Jose M. Olmos
- Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL
- Jose A. Riancho
- Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL
- Carmen Valero
- Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL
- Isabel C. Hostettler
- Stroke Research Centre, University College London, Institute of Neurology
- Henry Houlden
- Neurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery
- David J. Werring
- Stroke Research Center, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery
- Johannes Schumacher
- Institute for Human Genetics, University of Marburg
- Jan Gehlen
- Institute for Human Genetics, University of Marburg
- Ann-Sophie Giel
- Institute for Human Genetics, University of Marburg
- Benedikt C. Buerfent
- Institute for Human Genetics, University of Marburg
- Samara Arkani
- Department of Women’s and Children’s Health and Center for Molecular Medicine, Bioclinicum, Karolinska Institutet
- Elisabeth Åkesson
- Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet
- Emilia Rotstein
- ME Gynecology and Reproduction Medicine, Karolinska University Hospital, and Dept of Clintec, Karolinska Institutet
- Michael Ludwig
- Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn
- Gundela Holmdahl
- Department of Pediatric Surgery, Queen Silvia Children’s Hospital
- Elisa Giorgio
- Department of Molecular Medicine, University of Pavia
- Alfredo Berettini
- Pediatric Urology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico
- David Keene
- Paediatric Urology, Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation Trust
- Raimondo M. Cervellione
- Paediatric Urology, Royal Manchester Children’s Hospital, Central Manchester University Hospitals NHS Foundation Trust
- Nina Younsi
- Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University
- Melissa Ortlieb
- Department of Urology and Pediatric Urology, University Hospital of Ulm
- Josef Oswald
- Department for Pediatric Urology, Ordensklinikum Linz, Hospital of the Sisters of Charity
- Bernhard Haid
- Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University
- Martin Promm
- Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg
- Claudia Neissner
- Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg
- Karin Hirsch
- Division of Pediatric Urology, Department of Urology, University of Erlangen-Nürnberg
- Maximilian Stehr
- Department of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche Kinderklinik
- Frank-Mattias Schäfer
- Department of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche Kinderklinik
- Eberhard Schmiedeke
- Clinic for Paediatric Surgery and Paediatric Urology, Klinikum Bremen-Mitte
- Thomas M. Boemers
- Department of Pediatric Surgery and Urology, University Hospital Cologne
- Iris A. L. M. van Rooij
- Department of Pediatric Surgery, University of Leipzig
- Wouter F. J. Feitz
- Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center
- Carlo L. M. Marcelis
- Department of Urology, Pediatric Urology Center, Radboud University Nijmegen Medical Center
- Martin Lacher
- Department of Genetics, Radboud University Nijmegen Medical Center
- Jana Nelson
- Department of Genetics, Radboud University Nijmegen Medical Center
- Benno Ure
- Center of Pediatric Surgery Hannover, Hannover Medical School
- Caroline Fortmann
- Center of Pediatric Surgery Hannover, Hannover Medical School
- Daniel P. Gale
- Department of Renal Medicine, University College London
- Melanie M. Y. Chan
- Department of Renal Medicine, University College London
- Kerstin U. Ludwig
- Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn
- Markus M. Nöthen
- Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn
- Stefanie Heilmann
- Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn
- Nadine Zwink
- Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz
- Ekkehart Jenetzky
- Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz
- Benjamin Odermatt
- Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn
- Michael Knapp
- Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn
- Heiko Reutter
- Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn
- DOI
- https://doi.org/10.1038/s42003-022-04092-3
- Journal volume & issue
-
Vol. 5,
no. 1
pp. 1 – 11
Abstract
A genome-wide association study on classic bladder exstrophy reveals eight genome-wide significant loci, most of which contained genes expressed in embryonic developmental bladder stages.
