Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A common variation rs13333226 in the promoter region of UMOD gene was independently associated with ESRD in Han Chinese.
|
27938332 |
2016 |
Kidney Failure, Chronic
|
0.200 |
Biomarker
|
disease |
BEFREE |
Among the 77 individuals who developed ESRD, median age at onset of ESRD was 51 years for those with ADTKD-MUC1 versus 56 years (P=0.1) for those with ADTKD-UMOD.
|
29784615 |
2018 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
|
20686651 |
2010 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
GWASDB |
Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.
|
20686651 |
2010 |
Kidney Failure, Chronic
|
0.200 |
Biomarker
|
disease |
BEFREE |
Autosomal dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulo-in terstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life.
|
17245395 |
2007 |
Kidney Failure, Chronic
|
0.200 |
Biomarker
|
disease |
BEFREE |
Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulointerstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life.
|
14531790 |
2003 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure.
|
22034507 |
2011 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease.
|
19203555 |
2009 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
|
26831199 |
2016 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
GWASCAT |
Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
|
29124443 |
2018 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In addition to causing specific UAKD, certain uromodulin gene polymorphisms have been linked to ESRD in general, suggesting that uromodulin plays a modulatory role in kidney disease progression.
|
23880785 |
2014 |
Kidney Failure, Chronic
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Lower levels of serum uromodulin were independently associated with higher risk of incident ESKD after adjusting for traditional cardiovascular risk factors, with the hazard ratios (HRs) of 3.23 (95% confidence intervals [CIs] 2.15-4.85) for the middle tertile and 7.47 (95% CI 5.06-11.03) for the bottom tertile, compared with top tertile and 0.31 (95% CI 0.25-0.38) per every standard deviation increase.
|
30454063 |
2018 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the uromodulin (UMOD) gene that encodes Tamm-Horsfall protein (THP) cause an autosomal-dominant form of chronic renal failure.
|
15327389 |
2004 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One SNP (rs183962941), located in a non-coding region of UMOD, was nominally associated with ESRD (p = 0.008).
|
28609449 |
2017 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients with mutations in the UMOD gene encoding uromodulin suffer from precocious gout in addition to chronic kidney failure.
|
20807609 |
2010 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
SNPs in UMOD (OR = 0.92, p = 0.04) and GCKR (OR = 0.93, p = 0.03) were nominally associated with ESRD.
|
21980298 |
2011 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The cardinal clinical features in individuals with the uromodulin mutation included hyperuricemia, decreased fractional excretion of uric acid, and chronic interstitial renal disease leading to end-stage renal disease (ESRD) in the fifth through seventh decade.
|
12787393 |
2003 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether rs12917707 associates with ESRD, graft failure (GF) and urinary uromodulin levels in an independent cohort, we genotyped 1142 ESRD patients receiving a renal transplantation and 1184 kidney donors as controls.
|
22947327 |
2012 |
Kidney Failure, Chronic
|
0.200 |
Biomarker
|
disease |
BEFREE |
Urinary uromodulin independently predicts end-stage renal disease and rapid kidney function decline in a cohort of chronic kidney disease patients.
|
31124979 |
2019 |
Kidney Failure, Chronic
|
0.200 |
Biomarker
|
disease |
BEFREE |
We conclude that UMOD is unlikely to play a role in IgA nephropathy pathogenesis nor progression to end stage renal failure, and suggest that UMOD effects are restricted to some causes of renal disease, e.g. diabetes or hypertension.
|
25163389 |
2014 |
Kidney Failure, Chronic
|
0.200 |
GeneticVariation
|
disease |
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 |