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 …

[HTML][HTML] Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region …

A Köttgen, Q Yang, LC Shimmin, A Tin, C Schaeffer… - PloS one, 2012 - journals.plos.org
Background Recent genome-wide association studies (GWAS) have identified common
variants in the UMOD region associated with kidney function and disease in the general …

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 …

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 …

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 …

[HTML][HTML] UMOD as a susceptibility gene for end-stage renal disease

A Reznichenko, CA Böger, H Snieder… - BMC medical …, 2012 - Springer
Background In recent genetic association studies, common variants including rs12917707 in
the UMOD locus have shown strong evidence of association with eGFR, prevalent and …

[HTML][HTML] UMOD and the architecture of kidney disease

O Devuyst, M Bochud, E Olinger - Pflügers Archiv-European Journal of …, 2022 - Springer
The identification of genetic factors associated with the risk, onset, and progression of kidney
disease has the potential to provide mechanistic insights and therapeutic perspectives. In …

Mendelian randomization to assess causality between uromodulin, blood pressure and chronic kidney disease

B Ponte, MC Sadler, E Olinger, P Vollenweider… - Kidney international, 2021 - Elsevier
UMOD variants associated with higher levels of urinary uromodulin (uUMOD) increase the
risk of chronic kidney disease (CKD) and hypertension. However, uUMOD levels also reflect …

[HTML][HTML] 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 …

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) …