Mingardo, Enrico and Beaman, Glenda and Grote, Philip and Nordenskjold, Agneta and Newman, William and Woolf, Adrian S. and Eckstein, Markus and Hilger, Alina C. and Dworschak, Gabriel C. and Roesch, Wolfgang and Ebert, Anne-Karolin and Stein, Raimund and Brusco, Alfredo and Di Grazia, Massimo and Tamer, Ali and Torres, Federico M. and Hernandez, Jose L. and Erben, Philipp and Maj, Carlo and Olmos, Jose M. and Riancho, Jose A. and Valero, Carmen and Hostettler, Isabel C. and Houlden, Henry and Werring, David J. and Schumacher, Johannes and Gehlen, Jan and Giel, Ann-Sophie and Buerfent, Benedikt C. and Arkani, Samara and Akesson, Elisabeth and Rotstein, Emilia and Ludwig, Michael and Holmdahl, Gundela and Giorgio, Elisa and Berettini, Alfredo and Keene, David and Cervellione, Raimondo M. and Younsi, Nina and Ortlieb, Melissa and Oswald, Josef and Haid, Bernhard and Promm, Martin and Neissner, Claudia and Hirsch, Karin and Stehr, Maximilian and Schafer, Frank-Mattias and Schmiedeke, Eberhard and Boemers, Thomas M. and van Rooij, Iris A. L. M. and Feitz, Wouter F. J. and Marcelis, Carlo L. M. and Lacher, Martin and Nelson, Jana and Ure, Benno and Fortmann, Caroline and Gale, Daniel P. and Chan, Melanie M. Y. and Ludwig, Kerstin U. and Noethen, Markus M. and Heilmann, Stefanie and Zwink, Nadine and Jenetzky, Ekkehart and Odermatt, Benjamin and Knapp, Michael and Reutter, Heiko (2022) A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. COMMUNICATIONS BIOLOGY, 5 (1): 1203. ISSN , 2399-3642
Full text not available from this repository. (Request a copy)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: | Article |
|---|---|
| Uncontrolled Keywords: | URINARY-BLADDER; IMPUTATION; LOCUS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 19 Sep 2023 06:54 |
| Last Modified: | 19 Sep 2023 06:54 |
| URI: | https://pred.uni-regensburg.de/id/eprint/58841 |
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