|
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 |
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 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 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 |
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 |
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 |
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 |
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 |