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Semin Nephrol. 2018 Jul;38(4):317-324. doi: 10.1016/j.semnephrol.2018.05.002.

Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease.

Author information

1
Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.. Electronic address: jbkopp@nih.gov.
2
Molecular Genetic Epidemiology Section, Center for Cancer Research, National Institutes of Health, Frederick, MD.

Abstract

Recent advances in genetics of renal disease have deepened our understanding of progressive kidney disease. Here, we review genetic variants that are of particular importance to progressive glomerular disease that result in end-stage kidney disease (ESKD). Some of the most striking findings relate to APOL1 genetic variants, seen exclusively in individuals of sub-Saharan African descent, that create a predisposition to particular renal disorders, including focal segmental glomerulosclerosis and arterionephrosclerosis. We also review the genetics of cardiovascular disease in ESKD and note that little work has been published on the genetics of other ESKD complications, including anemia, bone disease, and infections. Deeper understanding of the genetics of ESKD and its complications may lead to new therapies that are tailored to an individual patient's genetic profile or are discovered based on genetic approaches that identify novel pathways of renal cell injury and repair.

KEYWORDS:

APOL1; apoliprotein L1; cardiovascular disease; diabetic nephropathy; dialysis survival

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