SynthesisJournal of the American Society of Nephrology : JASN2022
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin.
Open access · hybridAbstract readMeta-Analysis
In one paragraph
Synthesis in Journal of the American Society of Nephrology : JASN, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22citing papers in PubMed
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Who cites it
22 citing papers in PubMed, 29 citations in OpenAlex.
- Trial
- Lipocalin-2 Is Induced by Uromodulin Aggregates without Affecting Kidney Disease Progression in Autosomal Dominant Tubulointerstitial Kidney Disease- UMOD.Journal of the American Society of Nephrology : JASN · 2026Article
- Is uromodulin a reliable biomarker in pediatric vesicoureteral reflux? An exploratory pilot study.International urology and nephrology · 2026Article
- WDR72 Is Required for Urinary Acidification and Normal HActa physiologica (Oxford, England) · 2026Article
- The Role of Keratin in the Mechanisms of Kidney Diseases.BioMed research international · 2026Review
- A Multiomics Study of Circulating Proteins and Kidney Stone Risk.Journal of the American Society of Nephrology : JASN · 2025Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Genomic evidence of improved fertility and adaptation in Iranian domestic sheep attributed to introgression from Asiatic Mouflon and urial.Scientific reports · 2025Article
- Insights into Uromodulin and Blood Pressure.Current hypertension reports · 2024Review
- Article
- Advances in uromodulin biology and potential clinical applications.Nature reviews. Nephrology · 2024Review
- Evaluation of Genetic Associations with Clinical Phenotypes of Kidney Stone Disease.European urology open science · 2024Article
- Uromodulin and progression of IgA nephropathy.Clinical kidney journal · 2024Article
- Uromodulin biology.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024Review
- Genome-wide association study and fine-mapping on Korean biobank to discover renal trait-associated variants.Kidney research and clinical practice · 2024Article
- Unveiling the Hidden Power of Uromodulin: A Promising Potential Biomarker for Kidney Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- The pathophysiology of distal renal tubular acidosis.Nature reviews. Nephrology · 2023Review
- Kidney function may partially mediated the protective effect of urinary uromodulin on kidney stone.Urolithiasis · 2023Article
- Uromodulin and Vesico-Ureteral Reflux: A Genetic Study.Biomedicines · 2023Article
- Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.Journal of personalized medicine · 2022Review
Corrections and comments
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Authors and funding
43 authors at 20 institutions in 8 countries.
Christina B JosephMedical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, United Kingdom.ORCID 0000-0001-5758-3663
Marta MarinielloMechanisms of Inherited Kidney Disorders Group, Institute of Physiology Institute of Physiology, University of Zurich, Zurich, Switzerland.
Ayumi YoshifujiMechanisms of Inherited Kidney Disorders Group, Institute of Physiology Institute of Physiology, University of Zurich, Zurich, Switzerland.
Guglielmo SchianoMechanisms of Inherited Kidney Disorders Group, Institute of Physiology Institute of Physiology, University of Zurich, Zurich, Switzerland.
Jennifer LakeMechanisms of Inherited Kidney Disorders Group, Institute of Physiology Institute of Physiology, University of Zurich, Zurich, Switzerland.ORCID 0000-0002-9617-7438
Jonathan MartenMedical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, United Kingdom.
Anne RichmondMedical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, United Kingdom.
Jennifer E HuffmanCenter for Population Genomics,VA Boston Healthcare System, Jamaica Plain, Massachusetts.
Archie CampbellCentre for Genomic & Experimental Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Sarah E HarrisLothian Birth Cohorts, Department of Psychology, University of Edinburgh, Edinburgh, United Kingdom.ORCID 0000-0002-4941-5106
Stephan TroyanovDivision of Nephrology, Hôpital du Sacre-Coeur de Montreal, Montreal, Canada.
Massimiliano CoccaInstitute for Maternal and Child Health IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) "Burlo Garofolo" 34127 Trieste, Italy.
Antonietta RobinoInstitute for Maternal and Child Health IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) "Burlo Garofolo" 34127 Trieste, Italy.
Sébastien ThériaultDepartment of Molecular Biology, Medical Biochemistry and Pathology, Laval University, Quebec City, Canada.
Kai-Uwe EckardtDepartment of Nephrology and Hypertension, University of Erlangen-Nürnberg, Erlangen, Germany.ORCID 0000-0003-3823-0920
Matthias WuttkeInstitute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.ORCID 0000-0003-3420-5082
Yurong ChengInstitute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.
Tanguy CorreCenter for Primary Care and Public Health (Unisante), University of Lausanne, Lausanne, Switzerland.
Ivana KolcicDepartment of Public Health, Faculty of Medicine, University of Split, Split, Croatia.
Corrinda BlackAberdeen Centre for Health Data Science, School of Medicine, Medical Science and Nutrition, University of Aberdeen, Aberdeen, United Kingdom.
Vanessa BruatDepartment of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Maria Pina ConcasInstitute for Maternal and Child Health IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) "Burlo Garofolo" 34127 Trieste, Italy.ORCID 0000-0003-3598-2537
Cinzia SalaGenetics of Common Disorders Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Stefanie AeschbacherCardiology Division, University Hospital Basel, Basel, Switzerland.
Franz SchaeferDivision of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Sven BergmannDepartment of Computational Biology, University of Lausanne, Lausanne, Switzerland.
Harry CampbellUsher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, United Kingdom.
Matthias OldenDepartment of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany.
Ozren PolasekDepartment of Public Health, Faculty of Medicine, University of Split, Split, Croatia.
David J PorteousCentre for Genomic & Experimental Medicine, University of Edinburgh, Edinburgh, United Kingdom.ORCID 0000-0003-1249-6106
Ian J DearyLothian Birth Cohorts, Department of Psychology, University of Edinburgh, Edinburgh, United Kingdom.
Francois MadoreDivision of Nephrology, Hôpital du Sacre-Coeur de Montreal, Montreal, Canada.
Philip AwadallaDivision of Nephrology, Hôpital du Sacre-Coeur de Montreal, Montreal, Canada.
Giorgia GirottoInstitute for Maternal and Child Health IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) "Burlo Garofolo" 34127 Trieste, Italy.
Sheila UliviInstitute for Maternal and Child Health IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) "Burlo Garofolo" 34127 Trieste, Italy.
David ConenPopulation Health Research Institute, McMaster University, Hamilton, Canada.
Elke WuehlCardiology Division, University Hospital Basel, Basel, Switzerland.
Eric OlingerMechanisms of Inherited Kidney Disorders Group, Institute of Physiology Institute of Physiology, University of Zurich, Zurich, Switzerland.ORCID 0000-0003-1178-7980
James F WilsonMedical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, United Kingdom.
Murielle BochudCenter for Primary Care and Public Health (Unisante), University of Lausanne, Lausanne, Switzerland.
Anna KöttgenInstitute of Genetic Epidemiology, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.ORCID 0000-0002-4671-3714
Caroline HaywardMedical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, United Kingdom.ORCID 0000-0002-9405-9550
Olivier DevuystMechanisms of Inherited Kidney Disorders Group, Institute of Physiology Institute of Physiology, University of Zurich, Zurich, Switzerland.ORCID 0000-0003-3744-4767
University of Zurich · CHInstitute of Genetics and Cancer · GBIRCCS Materno Infantile Burlo Garofolo · ITHôpital du Sacré-Cœur de Montréal · CAUniversity of Freiburg · DEEdinburgh Cancer Research · GBNHS Lothian · GBPopulation Health Research Institute · CASIB Swiss Institute of Bioinformatics · CHUniversity Hospital of Basel · CHUniversity of Split · HRCentre universitaire de médecine générale et santé publique, Lausanne · CHFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHeidelberg University · DEUniversity of Aberdeen · GBUniversity of Edinburgh · GBUniversity of Regensburg · DEUniversity of Toronto · CAUniversity of Trieste · ITVA Boston Healthcare System · US
Funding
THE FRAMINGHAM HEART STUDY-N01HC25195-268025195-268025195N01HC025195 · HC · TRUSTEES OF BOSTON UNIVERSITY · PI WOLF, PHILIP A · 2002 to 2006
–Medical Research Council G0700704Medical Research Council MC_UU_00007/10Medical Research Council MR/K026992/1Medical Research Council MR/M01311/1NHLBI NIH HHS N01 HC025195Wellcome Trust
Abstract
backgroundUromodulin, the most abundant protein excreted in normal urine, plays major roles in kidney physiology and disease. The mechanisms regulating the urinary excretion of uromodulin remain essentially unknown.
methodsWe conducted a meta-analysis of genome-wide association studies for raw (uUMOD) and indexed to creatinine (uUCR) urinary levels of uromodulin in 29,315 individuals of European ancestry from 13 cohorts. We tested the distribution of candidate genes in kidney segments and investigated the effects of keratin-40 (KRT40) on uromodulin processing.
resultsTwo genome-wide significant signals were identified for uUMOD: a novel locus (
conclusionsCommon variants in
Indexed as
Genome-Wide Association StudyKidneyCreatinineHumansPolymorphism, Single NucleotideProtein Disulfide-IsomerasesUromodulinCreatininePDILT protein, humanProtein Disulfide-IsomerasesUromodulincytokeratinKRT40loop of HenleTamm-Horsfall proteinthick ascending limbWDR72
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.