Sandra Frese1, Alexander Weigert2, Bernd Hoppe2, Markus Feldkötter2, Michael Ludwig3, Stefanie Weber4, Katarzyna Kiliś-Pstrusińska5, Marcin Zaniew6, Heiko Reutter7,8, Alina C Hilger1,7. 1. Children's Hospital, University of Bonn, Bonn, Germany. 2. Department of Pediatrics, Division of Pediatric Nephrology, University Hospital Bonn, Bonn, Germany. 3. Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany. 4. University Children's Hospital Marburg, Philipps-University, Marburg, Germany. 5. Department of Pediatric Nephrology, Medical University, Wrocław, Poland. 6. Children's Hospital, Poznań, Poland. 7. Institute of Human Genetics, University of Bonn, Bonn, Germany. 8. Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.
Abstract
OBJECTIVE: The aim of the present study was to investigate genetic effects in the formation of congenital lower urinary tract obstruction (LUTO) comprising posterior urethral valves (PUV), urethral atresia, and urethras with variable degrees of stenosis. METHODS: A classic twin study was performed by assessing LUTO twin pairs from the literature. Furthermore, data regarding 3 previously unreported twin pairs with PUV from University of Bonn, Essen and Wrocławs own in-house databases were added. Both pair- and probandwise concordance rates were calculated and compared for monozygotic (MZ) and dizygotic (DZ) twin pairs. RESULTS: The pairwise concordance rates for all LUTO were 53% (95% confidence interval [CI] 32%-73%) and 17% (95% CI 3%-56%) for MZ and DZ twin pairs, respectively (P = .180). The probandwise concordance rates were 69% (95% CI 51%-83%) and 29% (CI 95% 8%-64%) for MZ and DZ twin pairs respectively (P = .084). The MZ/DZ ratios of the pair- and probandwise concordance rates were 3.1 and 2.4, respectively. CONCLUSION: The present study did not show significant differences in comparisons of concordance rates of MZ and DZ twin pairs, probably due to the small number of twin pairs reported. However, the more than 2-fold higher pair- and probandwise concordance rates for MZ versus DZ twin pairs are very suggestive of a contribution of genetic factors to the development of LUTO.
OBJECTIVE: The aim of the present study was to investigate genetic effects in the formation of congenital lower urinary tract obstruction (LUTO) comprising posterior urethral valves (PUV), urethral atresia, and urethras with variable degrees of stenosis. METHODS: A classic twin study was performed by assessing LUTO twin pairs from the literature. Furthermore, data regarding 3 previously unreported twin pairs with PUV from University of Bonn, Essen and Wrocławs own in-house databases were added. Both pair- and probandwise concordance rates were calculated and compared for monozygotic (MZ) and dizygotic (DZ) twin pairs. RESULTS: The pairwise concordance rates for all LUTO were 53% (95% confidence interval [CI] 32%-73%) and 17% (95% CI 3%-56%) for MZ and DZ twin pairs, respectively (P = .180). The probandwise concordance rates were 69% (95% CI 51%-83%) and 29% (CI 95% 8%-64%) for MZ and DZ twin pairs respectively (P = .084). The MZ/DZ ratios of the pair- and probandwise concordance rates were 3.1 and 2.4, respectively. CONCLUSION: The present study did not show significant differences in comparisons of concordance rates of MZ and DZ twin pairs, probably due to the small number of twin pairs reported. However, the more than 2-fold higher pair- and probandwise concordance rates for MZ versus DZ twin pairs are very suggestive of a contribution of genetic factors to the development of LUTO.
Authors: Loes F M van der Zanden; Carlo Maj; Oleg Borisov; Iris A L M van Rooij; Josine S L T Quaedackers; Martijn Steffens; Luca Schierbaum; Sophia Schneider; Lea Waffenschmidt; Lambertus A L M Kiemeney; Liesbeth L L de Wall; Stefanie Heilmann; Aybike Hofmann; Jan Gehlen; Johannes Schumacher; Maria Szczepanska; Katarzyna Taranta-Janusz; Pawel Kroll; Grazyna Krzemien; Agnieszka Szmigielska; Michiel F Schreuder; Stefanie Weber; Marcin Zaniew; Nel Roeleveld; Heiko Reutter; Wout F J Feitz; Alina C Hilger Journal: Front Pediatr Date: 2022-09-27 Impact factor: 3.569
Authors: Melanie M Y Chan; Omid Sadeghi-Alavijeh; Filipa M Lopes; Alina C Hilger; Horia C Stanescu; Catalin D Voinescu; Glenda M Beaman; William G Newman; Marcin Zaniew; Stefanie Weber; Yee Mang Ho; John O Connolly; Dan Wood; Carlo Maj; Alexander Stuckey; Athanasios Kousathanas; Robert Kleta; Adrian S Woolf; Detlef Bockenhauer; Adam P Levine; Daniel P Gale Journal: Elife Date: 2022-09-20 Impact factor: 8.713
Authors: Caroline M Kolvenbach; Gabriel C Dworschak; Sandra Frese; Anna S Japp; Peggy Schuster; Nina Wenzlitschke; Öznur Yilmaz; Filipa M Lopes; Alexey Pryalukhin; Luca Schierbaum; Loes F M van der Zanden; Franziska Kause; Ronen Schneider; Katarzyna Taranta-Janusz; Maria Szczepańska; Krzysztof Pawlaczyk; William G Newman; Glenda M Beaman; Helen M Stuart; Raimondo M Cervellione; Wouter F J Feitz; Iris A L M van Rooij; Michiel F Schreuder; Martijn Steffens; Stefanie Weber; Waltraut M Merz; Markus Feldkötter; Bernd Hoppe; Holger Thiele; Janine Altmüller; Christoph Berg; Glen Kristiansen; Michael Ludwig; Heiko Reutter; Adrian S Woolf; Friedhelm Hildebrandt; Phillip Grote; Marcin Zaniew; Benjamin Odermatt; Alina C Hilger Journal: Am J Hum Genet Date: 2019-05-02 Impact factor: 11.025