|
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 |
|
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 |
|
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 |
|
Chronic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We identified significant SNP associations (P < 5 × 10(-8)) with CKD at the UMOD locus, with eGFRcrea at UMOD, SHROOM3 and GATM-SPATA5L1, and with eGFRcys at CST and STC1.
|
19430482 |
2009 |
|
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 |
|
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 |
|
Chronic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
This study within persons with known coronary artery disease (CAD) evaluated whether uromodulin concentrations could distinguish CKD risk.
|
21235779 |
2011 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Chronic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recent genome-wide association studies have identified the uromodulin locus (UMOD), encoding the most common protein in human urine to be associated with hypertension and also with chronic kidney disease (CKD).
|
21738052 |
2011 |
|
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 |
|
Chronic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our findings validate the association between the UMOD variant and both CKD and SCr recently discovered in a large GWAS.
|
20686651 |
2010 |
|
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 |
|
Chronic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the uromodulin (UMOD) gene that encodes Tamm-Horsfall protein (THP) cause an autosomal-dominant form of chronic renal failure.
|
15327389 |
2004 |
|
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 |
|
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 |
|
Chronic Kidney Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
It provides new information regarding UMOD gene polymorphisms and their association with chronic kidney disease.
|
21071970 |
2011 |
|
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 |
|
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 |