UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Additionally, uromodulin is independently associated with AKI development after adjusting for clinically relevant parameters such as age, sex, diabetes, hypertension, severity of cirrhosis, and kidney function. 31411505 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Variations of urinary UMOD secretion can so contribute to common disorders such as hypertension or nephrolithiasis. 31205055 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Uromodulin is an example of a novel gene for hypertension identified from genome-wide association studies, currently the basis of a clinical trial to reposition loop diuretics in hypertension management. 29881931 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE Despite the unique location and recent association of THP gene mutations with hereditary uromodulin-associated kidney disease and THP single nucleotide polymorphisms with chronic kidney disease and hypertension, the physiological function(s) of THP and its pathological involvement remain incompletely understood. 29357410 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE We assessed the correlation of 10 single-nucleotide polymorphisms (SNPs) in genes modulating angiogenesis (vascular endothelial growth factor-A (VEGF-A), VEGF receptor 1 (VEGFR-1), serine threonine kinase 39 (STK39)) or hypertension (endothelin-1 and uromodulin) with outcome and toxicity. 27139155 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE Genome-wide association studies (GWAS) have identified UMOD locus to be associated with hypertension and diabetic nephropathy (DN). 29578190 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE These findings extend the previously documented role of UMOD for renal function also to treated high-risk patients with arterial hypertension and reveal a novel association with left atrial remodelling and thus a potential cardiorenal link modulated by UMOD. 28598953 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group BEFREE Analysis of covariance confirmed that T2DM was an independent determinant of serum uromodulin (F = 5.5, P = 0.020) after multivariate adjustment including hypertension and glomerular filtration rate. 28151855 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE The distribution of the UMOD ancestral allele did not follow the ancestral susceptibility model observed for variants associated with salt-sensitive hypertension. 26966016 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE Several genome-wide association studies revealed that several variants of UMOD gene were related to the estimated glomerular filtration rate (eGFR), CKD or hypertension. 27938332 2016
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE A recent genome-wide association study identified a locus on chromosome 16 in the promoter region of the uromodulin (UMOD) gene that is associated with hypertension. 24324041 2014
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 Biomarker group CTD_human A custom rat and baboon hypertension gene array to compare experimental models. 22228705 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 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
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group GWASDB Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. 21082022 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group GWASCAT Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. 21082022 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE The minor G allele is associated with a lower risk of hypertension (OR [95%CI]: 0.87 [0.84-0.91]), reduced urinary uromodulin excretion, better renal function; and each copy of the G allele is associated with a 7.7% reduction in risk of CVD events after adjusting for age, sex, BMI, and smoking status (H.R. 21082022 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.500 GeneticVariation group BEFREE These results suggest that the UMOD variant may influence the adaptation of the kidney to age-related risk factors of kidney disease such as hypertension and diabetes. 20686651 2010