Published in:Journal of the American Society of Nephrology
Language:
English
DOI:
10.1681/asn.2017070716
ISSN:
1046-6673;
1533-3450
Origination:
Footnote:
Description:
<jats:p>The identification of genetic factors associated with kidney disease has the potential to provide critical insights into disease mechanisms. Genome-wide association studies have uncovered genomic regions associated with renal function metrics and risk of CKD. <jats:italic toggle="yes">UMOD</jats:italic> is among the most outstanding loci associated with CKD in the general population, because it has a large effect on eGFR and CKD risk that is consistent across different ethnic groups. The relevance of <jats:italic toggle="yes">UMOD</jats:italic> for CKD is clear, because the encoded protein, uromodulin (Tamm–Horsfall protein), is exclusively produced by the kidney tubule and has specific biochemical properties that mediate important functions in the kidney and urine. Rare mutations in <jats:italic toggle="yes">UMOD</jats:italic> are the major cause of autosomal dominant tubulointerstitial kidney disease, a condition that leads to CKD and ESRD. In this brief review, we use the <jats:italic toggle="yes">UMOD</jats:italic> paradigm to describe how population genetic studies can yield insight into the pathogenesis and prognosis of kidney diseases.</jats:p>