|
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 |
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 |
In summary, elevated uromodulin concentrations precede the onset of CKD and associate with a common polymorphism in the UMOD region.
|
19959715 |
2010 |
|
Chronic Kidney Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In order to investigate the potential involvement of uromodulin in chronic kidney disease (CKD), we quantified uromodulin in paired urine and serum from 14 healthy volunteers and 77 CKD patients.
|
20075439 |
2010 |
|
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 |
Biomarker
|
group |
BEFREE |
From animal experiments and human studies it is hypothesized that uromodulin entering the renal interstitium either by basolateral secretion or urinary back-leakage in damaged tubuli interacts with and stimulates cells of the immune system and thereby causes inflammation and progression of chronic kidney disease.
|
20948228 |
2010 |
|
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 |
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 |
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 |
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 |
After adjusting for baseline eGFR, six of these loci remained significantly associated with incident CKD (UMOD, PRKAG2, ANXA9, DAB2, DACH1, and STC1).
|
21980298 |
2011 |
|
Chronic Kidney Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Follow-up studies stimulated by findings from genome-wide association studies of kidney disease are already yielding promising results, such as the identification of an association between urinary uromodulin levels and incident CKD.
|
22143329 |
2011 |
|
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 |
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 |
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 |
|
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 |
|
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |