UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 AlteredExpression group BEFREE Indeed, mutations in THP cause a group of inherited kidney diseases, and altered THP expression is associated with increased risks of urinary tract infection, kidney stone, hypertension, hyperuricemia and acute and chronic kidney diseases. 30649494 2020
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE Using a sample of 2377 persons with CKD at the baseline Systolic Blood Pressure Intervention Trial (SPRINT) visit, we evaluated the association of three urine tubular function markers, alpha-1 microglobulin (α1m), beta-2 microglobulin (β2m), and uromodulin, with a composite CVD endpoint (myocardial infarction, acute coronary syndrome, stroke, acute decompensated heart failure, or death from cardiovascular causes) and mortality using Cox proportional hazards regression, adjusted for baseline estimated glomerular filtration rate (eGFR), albuminuria, and CVD risk factors. 31257404 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 AlteredExpression group BEFREE Plasma and 24-h urinary zinc levels, urinary electrolytes and uromodulin were measured in 108 CKD patients and 81 individuals without CKD. 31006015 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE Furthermore, in the long course of chronic kidney diseases (CKD), SHP sometimes transforms into a hypercalcemic condition resembling the autonomous form of hyperparathyroidism (tertiary hyperparathyroidism; THP). 30641516 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE We aimed to establish the prevalence of genetic kidney diseases, ADTKD and ADTKD-UMOD in adult chronic kidney disease (CKD) patients, and to investigate characteristic features. 30376835 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE After 1 year of blood pressure intervention, incident CKD case participants in the intensive group had significantly greater decreases in albumin-creatinine ratio (ACR), interleukin-18, anti-chitinase-3-like protein 1 (YKL-40), and uromodulin than the matched control participants. 30357395 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. 28418009 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE Serum uromodulin concentration was inversely associated with the development of CKD, even after adjustment for patients age, sex, genotype of the identified polymorphism, hypertension and diabetes status, and eGFR (odds ratio = 0.263, P = 0.019), and it significantly increased the performance of a prediction model for CKD (C-statistics 0.844 vs. 0.804, P = 0.049). 28858977 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE We measured serum uromodulin concentrations by ELISA in 2652 CKD patients from the Chinese Cohort Study of Chronic Kidney Disease (C-STRIDE) and investigated the association of serum uromodulin with outcomes of CKD patients, including end-stage kidney disease (ESKD) receiving kidney replacement therapy, cardiovascular events and mortality by Cox proportional hazards regression model. 30454063 2018
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE Moreover, genome-wide association studies have identified common variants in UMOD that are strongly associated with risk of CKD and also with hypertension and kidney stones in the general population. 28781372 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE The results of recent studies suggest an association between CKD development and genetic variation within the uromodulin gene (UMOD). 28954491 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE This review presents some new possible biomarkers in the diagnosis of CKD and in the prediction of outcome, including asymmetric dimethylarginine (ADMA), symmetric dimethylarginine (SDMA), uromodulin, kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), miRNA, ncRNA, and lincRNA biomarkers and proteomic and metabolomic biomarkers. 28777303 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE Evaluation of CKD stage showed a significant association of the UMOD risk variant, previously identified in population-based studies for association with kidney function, for advanced (stage ≥G3b) compared to early-stage CKD (≤stage G2). 29066732 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE SNPs and CpG sites in the genomic region encompassing UMOD were evaluated for association with CKD in two studies; the UK Wellcome Trust Case-Control 3 Renal Transplant Dysfunction Study (n = 1088) and UK-ROI GENIE GWAS (n = 1726). 28609449 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE In addition, common single nucleotide polymorphisms in the UMOD promoter have been associated with the risk for impaired renal function and chronic kidney disease. 26040415 2015
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE The biological mechanism underlying the association between UMOD risk variants and susceptibility to CKD and hypertension was not understood until last year, when the link between UMOD and hypertension was found to be caused by overactivation of the TAL sodium-potassium-chloride co-transporter NKCC2, pointing to UMOD as a therapeutic target for lowering blood pressure and preserving renal function. 25228753 2015
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE We report 2 cases of familial juvenile hyperuricemic nephropathy, a rare autosomal dominant disorder characterized by uromodulin gene mutations leading to hyperuricemia secondary to profound renal uric acid underexcretion, gout, and chronic renal disease. 25417683 2014
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE UMOD was also associated with a lower rate of transition to stage 3B chronic kidney disease (hazard ratio = 0.83[0.70, 0.99], P = 0.03). 23586973 2013
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 AlteredExpression group BEFREE Our findings link genetic susceptibility to hypertension and CKD to the level of uromodulin expression and uromodulin's effect on salt reabsorption in the kidney. 24185693 2013
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE Mutations in uromodulin are responsible for autosomal-dominant kidney diseases characterized by defective urine concentrating ability, hyperuricemia, gout, tubulointerstitial fibrosis, renal cysts, and chronic kidney disease. 22237754 2012
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE Individuals (n = 485) were selected based on presence of the GWAS risk haplotype and chronic kidney disease (CKD) in the ARIC Study and on the extremes of of the UMOD gene product, uromodulin, in urine (Tamm Horsfall protein, THP) in the Framingham Heart Study (FHS). 22693617 2012
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE In recent genetic association studies, common variants including rs12917707 in the UMOD locus have shown strong evidence of association with eGFR, prevalent and incident chronic kidney disease and uromodulin urinary concentration in general population cohorts. 22947327 2012
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE Recently, genome-wide association studies identified uromodulin as a risk factor for chronic kidney disease (CKD) and hypertension, and suggested that the level of uromodulin in the urine could represent a useful biomarker for the development of CKD. 21654721 2011
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 GeneticVariation group BEFREE We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes. 21903317 2011
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.100 Biomarker group BEFREE This study implicates that UMOD might play a role in the relationship between gout and CKD. 21332338 2011