Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
Kendrah Kidd(Charles University), Petr Vyleťal(Charles University), Céline Schaeffer(Istituti di Ricovero e Cura a Carattere Scientifico), Eric Olinger(University of Zurich), Martina Živná(Charles University), Kateřina Hodaňová(Charles University), Victoria Robins(Wake Forest University), Emily Johnson(Wake Forest University), Abbigail Taylor(Wake Forest University), Lauren Martin(Wake Forest University), Claudia Izzi(University of Brescia), Sofía Jorge(Centro Hospitalar Lisboa Norte), Joaquim Calado(University of Lisbon), Rosa J. Torres(Centre for Biomedical Network Research on Rare Diseases), Karl Lhotta(Landeskrankenhaus Feldkirch), Dominik Steubl(Klinikum rechts der Isar), Daniel P. Gale(University College London), Christine Gast(Portsmouth Hospitals NHS Trust), Eva C. Gombos(Heim Pál Gyermekkórház), Hannah C. Ainsworth(Wake Forest University), Ying Maggie Chen(Washington University in St. Louis), Jorge Reis Almeida(Universidade Federal Fluminense), Cintia Fernandes Souza(Universidade Federal Fluminense), Catarina Silveira(University of Lisbon), Rita Raposeiro(University of Lisbon), Nelson Weller(Wake Forest University), Peter J. Conlon(Beaumont Hospital), Susan Murray(Royal College of Surgeons in Ireland), Katherine A. Benson(Royal College of Surgeons in Ireland), Gianpiero L. Cavalleri(Beaumont Hospital), Miroslav Votruba(Charles University), Alena Vrbacká(Charles University), Antonio Amoroso(University of Turin), Daniela Gianchino(University of Turin), Gianluca Caridi(Istituti di Ricovero e Cura a Carattere Scientifico), Gian Marco Ghiggeri(Istituti di Ricovero e Cura a Carattere Scientifico), Jasmin Divers(Wake Forest University), Francesco Scolari(University of Brescia), Olivier Devuyst(University of Zurich), Luca Rampoldi(Istituti di Ricovero e Cura a Carattere Scientifico), Stanislav Kmoch(Charles University), Anthony J. Bleyer(Wake Forest University)
Cited by 53Open Access
Abstract
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the promoter of the UMOD gene, is present in 19% of the population and downregulates uromodulin production by approximately 50% and might affect the age of ESKD. The goal of this study was to better understand the genetic and clinical characteristics of ADTKD-UMOD and to perform a Mendelian randomization study to determine if the minor allele of rs4293393 was associated with better kidney survival.
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