Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension

S Padmanabhan, O Melander, T Johnson… - PLoS …, 2010 - journals.plos.org
Hypertension is a heritable and major contributor to the global burden of disease. The sum
of rare and common genetic variants robustly identified so far explain only 1%–2% of the …

Validation of uromodulin as a candidate gene for human essential hypertension

LA Graham, S Padmanabhan, NJ Fraser, S Kumar… - …, 2014 - Am Heart Assoc
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. Here …

Uromodulin: from monogenic to multifactorial diseases

F Scolari, C Izzi, GM Ghiggeri - Nephrology Dialysis …, 2015 - academic.oup.com
Uromodulin, the major protein secreted in normal urine, is exclusively produced in the thick
ascending limb (TAL) cells of the kidney. The exact role uromodulin (UMOD) plays in renal …

[HTML][HTML] Genomics of blood pressure and hypertension: extending the mosaic theory toward stratification

S Lip, S Padmanabhan - Canadian Journal of Cardiology, 2020 - Elsevier
The genetic architecture of blood pressure (BP) now includes more than 30 genes, with rare
mutations resulting in inherited forms of hypertension or hypotension, and 1477 common …

Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis

M Olden, T Corre, C Hayward, D Toniolo… - Journal of the …, 2014 - journals.lww.com
Uromodulin is expressed exclusively in the thick ascending limb and is the most abundant
protein excreted in normal urine. Variants in UMOD, which encodes uromodulin, are …

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

M Trudu, S Janas, C Lanzani, H Debaix, C Schaeffer… - Nature medicine, 2013 - nature.com
Hypertension and chronic kidney disease (CKD) are complex traits representing major
global health problems 1, 2. Multiple genome-wide association studies have identified …

Uromodulin levels associate with a common UMOD variant and risk for incident CKD

A Köttgen, SJ Hwang, MG Larson… - Journal of the …, 2010 - journals.lww.com
Common variants in the region of the UMOD gene, which encodes uromodulin (Tamm-
Horsfall protein), associate with chronic kidney disease (CKD) and estimated GFR (eGFR) …

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease

E Olinger, C Schaeffer, K Kidd… - Proceedings of the …, 2022 - National Acad Sciences
The kidney-specific gene UMOD encodes for uromodulin, the most abundant protein
excreted in normal urine. Rare large-effect variants in UMOD cause autosomal dominant …

Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

DF Gudbjartsson, H Holm, OS Indridason… - PLoS …, 2010 - journals.plos.org
Chronic kidney disease (CKD) is a worldwide public health problem that is associated with
substantial morbidity and mortality. To search for sequence variants that associate with CKD …

The UMOD locus: insights into the pathogenesis and prognosis of kidney disease

O Devuyst, C Pattaro - Journal of the American Society of …, 2018 - journals.lww.com
The identification of genetic factors associated with kidney disease has the potential to
provide critical insights into disease mechanisms. Genome-wide association studies have …