Mingardo, Enrico, Beaman, Glenda, Grote, Philip, Nordenskjold, Agneta, Newman, William ORCID: 0000-0002-6382-4678, Woolf, Adrian S., Eckstein, Markus ORCID: 0000-0001-5418-3349, Hilger, Alina C., Dworschak, Gabriel C., Roesch, Wolfgang, Ebert, Anne-Karolin, Stein, Raimund, Brusco, Alfredo, Di Grazia, Massimo, Tamer, Ali, Torres, Federico M., Hernandez, Jose L., Erben, Philipp, Maj, Carlo, Olmos, Jose M. ORCID: 0000-0002-7765-0891, Riancho, Jose A., Valero, Carmen, Hostettler, Isabel C., Houlden, Henry, Werring, David J., Schumacher, Johannes, Gehlen, Jan, Giel, Ann-Sophie, Buerfent, Benedikt C., Arkani, Samara, Akesson, Elisabeth, Rotstein, Emilia, Ludwig, Michael, Holmdahl, Gundela, Giorgio, Elisa, Berettini, Alfredo, Keene, David, Cervellione, Raimondo M., Younsi, Nina, Ortlieb, Melissa, Oswald, Josef, Haid, Bernhard, Promm, Martin, Neissner, Claudia, Hirsch, Karin, Stehr, Maximilian, Schafer, Frank-Mattias, Schmiedeke, Eberhard, Boemers, Thomas M., van Rooij, Iris A. L. M., Feitz, Wouter F. J., Marcelis, Carlo L. M., Lacher, Martin, Nelson, Jana, Ure, Benno, Fortmann, Caroline, Gale, Daniel P., Chan, Melanie M. Y., Ludwig, Kerstin U., Noethen, Markus M., Heilmann, Stefanie, Zwink, Nadine, Jenetzky, Ekkehart, Odermatt, Benjamin, Knapp, Michael and Reutter, Heiko (2022). A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Commun. Biol., 5 (1). BERLIN: NATURE PORTFOLIO. ISSN 2399-3642

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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. 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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Mingardo, EnricoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beaman, GlendaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Grote, PhilipUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nordenskjold, AgnetaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Newman, WilliamUNSPECIFIEDorcid.org/0000-0002-6382-4678UNSPECIFIED
Woolf, Adrian S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eckstein, MarkusUNSPECIFIEDorcid.org/0000-0001-5418-3349UNSPECIFIED
Hilger, Alina C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dworschak, Gabriel C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roesch, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ebert, Anne-KarolinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stein, RaimundUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brusco, AlfredoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Di Grazia, MassimoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tamer, AliUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torres, Federico M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hernandez, Jose L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Erben, PhilippUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Maj, CarloUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olmos, Jose M.UNSPECIFIEDorcid.org/0000-0002-7765-0891UNSPECIFIED
Riancho, Jose A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Valero, CarmenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hostettler, Isabel C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Houlden, HenryUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Werring, David J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schumacher, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gehlen, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giel, Ann-SophieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buerfent, Benedikt C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arkani, SamaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Akesson, ElisabethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rotstein, EmiliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ludwig, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Holmdahl, GundelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giorgio, ElisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berettini, AlfredoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Keene, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cervellione, Raimondo M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Younsi, NinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ortlieb, MelissaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oswald, JosefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Haid, BernhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Promm, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neissner, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hirsch, KarinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stehr, MaximilianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schafer, Frank-MattiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmiedeke, EberhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boemers, Thomas M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Rooij, Iris A. L. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Feitz, Wouter F. J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Marcelis, Carlo L. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lacher, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nelson, JanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ure, BennoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fortmann, CarolineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gale, Daniel P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chan, Melanie M. Y.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ludwig, Kerstin U.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Noethen, Markus M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heilmann, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zwink, NadineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Jenetzky, EkkehartUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Odermatt, BenjaminUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Knapp, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Reutter, HeikoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-698632
DOI: 10.1038/s42003-022-04092-3
Journal or Publication Title: Commun. Biol.
Volume: 5
Number: 1
Date: 2022
Publisher: NATURE PORTFOLIO
Place of Publication: BERLIN
ISSN: 2399-3642
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
URINARY-BLADDER; IMPUTATION; LOCUSMultiple languages
Biology; Multidisciplinary SciencesMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69863

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