Genome-wide association study in patients with posterior urethral valves.
BMP7
PCDH9
SALL1
genome wide association study
lower urinary tract obstruction
obstructive uropathy
posterior urethral valves
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2022
2022
Historique:
received:
07
07
2022
accepted:
19
08
2022
entrez:
14
10
2022
pubmed:
15
10
2022
medline:
15
10
2022
Statut:
epublish
Résumé
Congenital lower urinary tract obstructions (LUTO) are most often caused by posterior urethral valves (PUV), a male limited anatomical obstruction of the urethra affecting 1 in 4,000 male live births. Little is known about the genetic background of PUV. Here, we report the largest genome-wide association study (GWAS) for PUV in 4 cohorts of patients and controls. The final meta-analysis included 756 patients and 4,823 ethnicity matched controls and comprised 5,754,208 variants that were genotyped or imputed and passed quality control in all 4 cohorts. No genome-wide significant locus was identified, but 33 variants showed suggestive significance (
Identifiants
pubmed: 36238604
doi: 10.3389/fped.2022.988374
pmc: PMC9552614
doi:
Types de publication
Journal Article
Langues
eng
Pagination
988374Informations de copyright
Copyright © 2022 van der Zanden, Maj, Borisov, van Rooij, Quaedackers, Steffens, Schierbaum, Schneider, Waffenschmidt, Kiemeney, de Wall, Heilmann, Hofmann, Gehlen, Schumacher, Szczepanska, Taranta-Janusz, Kroll, Krzemien, Szmigielska, Schreuder, Weber, Zaniew, Roeleveld, Reutter, Feitz and Hilger.
Déclaration de conflit d'intérêts
Author SH was employed by Life&Brain GmbH. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Am J Perinatol. 1994 Jan;11(1):37-9
pubmed: 8155208
Pediatr Nephrol. 2015 Mar;30(3):487-95
pubmed: 25270717
J Pediatr Urol. 2010 Dec;6(6):560-6
pubmed: 20149750
Nat Genet. 2011 Jan;43(1):48-50
pubmed: 21113153
PLoS One. 2016 Jul 15;11(7):e0158977
pubmed: 27420727
Genes (Basel). 2019 Dec 07;10(12):
pubmed: 31817908
Pediatr Nephrol. 2000 Jan;14(1):25-8
pubmed: 10654325
Nature. 2015 Oct 1;526(7571):68-74
pubmed: 26432245
Am J Med Genet A. 2016 Mar;170(3):622-33
pubmed: 26663319
Cell. 2020 Sep 3;182(5):1214-1231.e11
pubmed: 32888494
Nature. 2013 Mar 28;495(7442):467-73
pubmed: 23455423
Bioinformatics. 2010 Nov 15;26(22):2867-73
pubmed: 20926424
Gene Expr Patterns. 2009 Apr;9(4):224-30
pubmed: 19159697
Sci Rep. 2017 Feb 08;7:42170
pubmed: 28176844
Am J Hum Genet. 2019 May 2;104(5):994-1006
pubmed: 31051115
Nucleic Acids Res. 2019 Jan 8;47(D1):D711-D715
pubmed: 30357387
Am Heart J. 2002 Aug;144(2):212-8
pubmed: 12177636
PLoS Genet. 2009 Jun;5(6):e1000529
pubmed: 19543373
Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):675-84
pubmed: 27150573
Birth Defects Res A Clin Mol Teratol. 2008 Apr;82(4):232-5
pubmed: 18240166
Genome Res. 2012 Sep;22(9):1790-7
pubmed: 22955989
Int J Epidemiol. 2017 Aug 1;46(4):1099-1100j
pubmed: 28082374
Genomics. 1998 Oct 1;53(1):81-9
pubmed: 9787079
J Pediatr Surg. 2019 Feb;54(2):318-321
pubmed: 30528204
Nat Commun. 2019 Apr 23;10(1):1891
pubmed: 31015401
J Pediatr. 1978 Aug;93(2):270-3
pubmed: 671168
Genes Dev. 1997 May 15;11(10):1207-25
pubmed: 9171367
Low Urin Tract Symptoms. 2019 Apr;11(2):O85-O88
pubmed: 29664229
Am J Med Genet A. 2012 Mar;158A(3):533-40
pubmed: 22308078
Matern Health Neonatol Perinatol. 2015 Nov 18;1:26
pubmed: 27057343
Am J Hum Genet. 2013 Oct 3;93(4):687-96
pubmed: 24094745