(B) OR for CKD in the general population of Asian ancestry as reported by the AGEN Consortium. Given the different genetic imputation platforms (HapMap versus 1000 Genomes), not all loci were available. for these loci and the albuminuria locus cubilin ( CUBN), ORs for CKD were obtained by a lookup of the GWAS results published in the work by Pattaro et al. , Given that no GWAS of CKD was performed by Gorski et al. (A) OR for CKD in the general population of European ancestry at loci reported by the CKDGen Consortium GWAS. The underlying trait that led to uncover each specific locus is identified with a different color: eGFRcrea (blue), albuminuria (red), BUN (green), and uric acid (orange).

The ORs are reported along with their 95% CIs.

ORs for CKD at the loci showing genome-wide significant association with CKD underlying traits. In this brief review, we use the UMOD paradigm to describe how population genetic studies can yield insight into the pathogenesis and prognosis of kidney diseases.Ĭopyright © 2018 by the American Society of Nephrology. Rare mutations in UMOD are the major cause of autosomal dominant tubulointerstitial kidney disease, a condition that leads to CKD and ESRD. The relevance of UMOD 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. UMOD 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.

Genome-wide association studies have uncovered genomic regions associated with renal function metrics and risk of CKD. The identification of genetic factors associated with kidney disease has the potential to provide critical insights into disease mechanisms.

How to use umod