Genome-wide association study in patients with posterior urethral valves

  • van der Zanden, Loes F.M.
  • Maj, Carlo
  • Borisov, Oleg
  • van Rooij, Iris A.L.M.
  • Quaedackers, Josine S.L.T.
  • Steffens, Martijn
  • Schierbaum, Luca
  • Schneider, Sophia
  • Waffenschmidt, Lea
  • Kiemeney, Lambertus A.L.M.
  • de Wall, Liesbeth L.L.
  • Heilmann, Stefanie
  • Hofmann, Aybike
  • Gehlen, Jan
  • Schumacher, Johannes
  • Szczepanska, Maria
  • Taranta-Janusz, Katarzyna
  • Kroll, Pawel
  • Krzemien, Grazyna
  • Szmigielska, Agnieszka
  • Schreuder, Michiel F.
  • Weber, Stefanie
  • Zaniew, Marcin
  • Roeleveld, Nel
  • Reutter, Heiko
  • Feitz, Wout F.J.
  • Hilger, Alina C.
Open PDF
Publication date
September 2022
Language
English

Abstract

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 (P < 1 × 10−5). When considering only loci with multiple variants residing within < 10 kB ...

Extracted data

We use cookies to provide a better user experience.