Unravelling the genetic basis of renal diseases; from single gene to multifactorial disorders

AJ McKnight, D Currie… - The Journal of Pathology: A …, 2010 - Wiley Online Library
AJ McKnight, D Currie, AP Maxwell
The Journal of Pathology: A Journal of the Pathological Society of …, 2010Wiley Online Library
Chronic kidney disease is common with up to 5% of the adult population reported to have an
estimated glomerular filtration rate of< 60 ml/min/1.73 m2. A large number of pathogenic
mutations have been identified that are responsible for 'single gene'renal disorders, such as
autosomal dominant polycystic kidney disease and X‐linked Alport syndrome. These single
gene disorders account for< 15% of the burden of end‐stage renal disease that requires
dialysis or kidney transplantation. It has proved more difficult to identify the genetic …
Abstract
Chronic kidney disease is common with up to 5% of the adult population reported to have an estimated glomerular filtration rate of < 60 ml/min/1.73 m2. A large number of pathogenic mutations have been identified that are responsible for ‘single gene’ renal disorders, such as autosomal dominant polycystic kidney disease and X‐linked Alport syndrome. These single gene disorders account for < 15% of the burden of end‐stage renal disease that requires dialysis or kidney transplantation. It has proved more difficult to identify the genetic susceptibility underlying common, complex, multifactorial kidney conditions, such as diabetic nephropathy and hypertensive nephrosclerosis. This review describes success to date and explores strategies currently employed in defining the genetic basis for a number of renal disorders. The complementary use of linkage studies, candidate gene and genome‐wide association analyses are described and a collation of renal genetic resources highlighted. Copyright © 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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