Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

Reutter, Heiko ; Draaken, Markus ; Pennimpede, Tracie ; Wittler, Lars ; Brockschmidt, Felix F. ; Ebert, Anne-Karolin ; Bartels, Enrika ; Rösch, Wolfgang ; Boemers, Thomas M. ; Hirsch, Karin ; Schmiedeke, Eberhard ; Meesters, Christian ; Becker, Tim ; Stein, Raimund ; Utsch, Boris ; Mangold, Elisabeth ; Nordenskjöld, Agneta ; Barker, Gillian ; Kockum, Christina Clementsson ; Zwink, Nadine ; Holmdahl, Gundula ; Läckgren, Göran ; Jenetzky, Ekkehart ; Feitz, Wouter F.J. ; Marcelis, Carlo ; Wijers, Charlotte H.W. ; Van Rooij, Iris A.L.M. ; Gearhart, John P. ; Herrmann, Bernhard G. ; Ludwig, Michael ; Boyadjiev, Simeon A. ; Nöthen, Markus M. ; Mattheisen, Manuel

---

Alternative Links zum Volltext:DOIVerlag

---

Details

Dokumentenart:	Artikel
Titel eines Journals oder einer Zeitschrift:	Human Molecular Genetics
Verlag:	OXFORD UNIV PRESS
Ort der Veröffentlichung:	OXFORD
Band:	23
Nummer des Zeitschriftenheftes oder des Kapitels:	20
Seitenbereich:	S. 5536-5544
Datum:	2014
Institutionen:	Medizin > Lehrstuhl für Kinder- und Jugendmedizin
Identifikationsnummer:	Wert Typ 10.1093/hmg/ddu259 DOI
Stichwörter / Keywords:	EPISPADIAS COMPLEX BEEC; OF-THE-LITERATURE; FAMILIES; DYSREGULATION; IMPUTATION; PROJECT; GUDMAP; GENES; SALL1; PLAYS;
Dewey-Dezimal-Klassifikation:	600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin
Status:	Veröffentlicht
Begutachtet:	Ja, diese Version wurde begutachtet
An der Universität Regensburg entstanden:	Ja
Dokumenten-ID:	61070

Indiziert in

Web of Science

Bibliographische Daten exportieren

ASCII CitationAtomBibTeXData Cite XMLDataCite XML OAIDublin CoreDublin Core (LZV)EndNoteHTML CitationJSONJSON LDMETSMODSOPENAIREOpenAPCRDF+N-TriplesRDF+N3RDF+XMLReferReference ManagerSimple MetadataXMLopenCostxMetaDissPlus

---

Zusammenfassung

Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients ...

Zusammenfassung

Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P = 8.88 x 10(-5); follow-up: P = 0.0025; combined: 1.09 x 10(-6)) in a highly conserved 32 kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P = 0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.

---

---

Metadaten zuletzt geändert: 19 Dez 2024 08:06

Nur für Besitzer und Autoren: Kontrollseite des Eintrags

Altmetric

Altmetric

Altmetric

Alternative Statistik (altmetrics)

Weitere Literatur (mittels CORE)

Weitere Literatur (mittels CORE)

Weitere Literatur (mittels CORE)

Weitere Literatur (mittels CORE)