Article

An intermediate effect size variant in <i>UMOD</i> confers risk for chronic kidney disease

2021-10-02

Abstract excerpt

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 tubulointerstitial kidney disease (ADTKD) while common, low-effect variants strongly associate with kidney function and risk of chronic kidney disease (CKD) in the general population. It is unknown whether intermediate-effect variants in UMOD contrib...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6b780e67-3f81-52a0-b00f-50ce1ace908b
DOI: 10.1101/2021.09.27.21263789

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

An intermediate effect size variant in <i>UMOD</i> confers risk for chronic kidney diseaseDOI 10.1101/2021.09.27.21263789Read

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.Semantic proximity Read

UMOD and the architecture of kidney diseaseSemantic proximity Read

The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease.Semantic proximity Read

Uromodulin T62P variant causes kidney tubular stress and injury modulated by age and polygenic riskSemantic proximity Read

Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.Semantic proximity Read

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.Semantic proximity Read

Autosomal Dominant Tubulointerstitial Kidney Disease-UMOD: Case Report and Disease UpdateSemantic proximity Read

Allelic and Gene Dosage Effects Involving Uromodulin Aggregates Drive Autosomal Dominant Tubulointerstitial Kidney DiseaseSemantic proximity Read

Uromodulin: from monogenic to multifactorial diseases.Semantic proximity Read

Resolving the classification rates and molecular architecture of early-onset chronic kidney disease with NephVarSemantic proximity Read

Autosomal dominant tubulointerstitial kidney disease-UMOD: a short review.Semantic proximity Read

Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.Semantic proximity Read