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

J Pathol. 2010 Jan;220(2):198-216. doi: 10.1002/path.2639.


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 m(2). 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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • DNA Copy Number Variations
  • DNA, Mitochondrial / genetics
  • Genetic Linkage
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome-Wide Association Study
  • Humans
  • Kidney Diseases / genetics*
  • Phenotype
  • Systems Biology / methods


  • DNA, Mitochondrial