|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
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 implicates that UMOD might play a role in the relationship between gout and CKD.
|
21332338 |
2011 |