ArticleKidney international2013
Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels.
Article in Kidney international, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 36 citations in OpenAlex.
- Disentangling Uric Acid and Renal Pathways in SGLT2 Inhibitor Effects After Acute Myocardial Infarction: A Retrospective Mediation Analysis.Biomedicines · 2026Article
- Inhibition of METTL3 Attenuates Renal Fibrosis by Upregulating ABCG2 m6A Modifications via IGF2BP2-Dependent Mechanisms in Hyperuricemic Nephropathy.Journal of cellular and molecular medicine · 2025Article
- Unveiling the Hidden Power of Uromodulin: A Promising Potential Biomarker for Kidney Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Article
- Complexities of Understanding Function from CKD-Associated DNA Variants.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Uromodulin in mineral metabolism.Current opinion in nephrology and hypertension · 2019Review
- Urate crystal deposition, prevention and various diagnosis techniques of GOUT arthritis disease: a comprehensive review.Health information science and systems · 2018Article
- Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6).The Journal of biological chemistry · 2018Article
- Uromodulin deficiency alters tubular injury and interstitial inflammation but not fibrosis in experimental obstructive nephropathy.Physiological reports · 2018Article
- TheJournal of the American Society of Nephrology : JASN · 2018Review
- Uromodulin: from physiology to rare and complex kidney disorders.Nature reviews. Nephrology · 2017Review
- Gout: An old disease in new perspective - A review.Journal of advanced research · 2017Review
- A single nucleotide polymorphism in the UMOD promoter is associated with end stage renal disease.BMC medical genetics · 2016Article
- Interaction of uromodulin and complement factor H enhances C3b inactivation.Journal of cellular and molecular medicine · 2016Article
- Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes.Journal of the American Society of Nephrology : JASN · 2016Review
- Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion.Clinical journal of the American Society of Nephrology : CJASN · 2016Article
- Uric acid and the kidney.Pediatric nephrology (Berlin, Germany) · 2014Review
- Uric acid and chronic kidney disease: which is chasing which?Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2013Review
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
14 authors at 6 institutions in 2 countries.
Funding
Abstract
Uromodulin (UMOD) genetic variants cause familial juvenile hyperuricemic nephropathy, characterized by hyperuricemia with decreased renal excretion of UMOD and uric acid, suggesting a role for UMOD in the regulation of plasma uric acid. To determine this, we screened common variants across the UMOD locus in one community-based Chinese population of 1000 individuals and the other population from 642 American twins and siblings of European and Hispanic ancestry. Transcriptional activity of promoter variants was estimated in luciferase reporter plasmids transfected into HEK-293 cells and mIMCD3 cells. In the primary Chinese population, we found that carriers of the GCC haplotype had higher plasma uric acid, and three promoter variants were associated with plasma uric acid. UMOD promoter variants displayed reciprocal effects on urine uric acid excretion and plasma uric acid concentration, suggesting a primary effect on renal tubular handling of urate. These UMOD genetic marker-on-trait associations for uric acid were replicated in the independent American cohort. Site-directed mutagenesis at trait-associated UMOD promoter variants altered promoter activity in transfected luciferase reporter plasmids. Thus, UMOD promoter variants seem to initiate a cascade of transcriptional and biochemical changes influencing UMOD secretion, leading to altered plasma uric acid levels.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.