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

Amy J McKnight1, Diane Currie, Alexander P Maxwell

  • 1Nephrology Research Group, Queen's University of Belfast, Belfast BT9 7AB, Northern Ireland, UK.

The Journal of Pathology
|November 3, 2009
PubMed

Insights

Identifying genetic factors for common kidney diseases like diabetic nephropathy is challenging. This review explores strategies and resources for understanding the genetic basis of renal disorders.

Area of Science:

  • Nephrology
  • Genetics
  • Genomics

Background:

  • Chronic kidney disease (CKD) affects up to 5% of adults.
  • Single gene disorders like polycystic kidney disease and Alport syndrome are well-defined genetically.
  • Complex kidney diseases (e.g., diabetic nephropathy) have a less understood genetic basis.

Purpose of the Study:

  • To review current progress in identifying genetic factors for renal disorders.
  • To explore strategies for defining the genetic basis of common and complex kidney diseases.
  • To highlight available renal genetic resources.

Main Methods:

  • Review of linkage studies.
  • Analysis of candidate gene studies.
  • Examination of genome-wide association studies (GWAS).

Main Results:

  • Significant progress has been made in identifying genes for single-gene renal disorders.
  • Identifying genetic susceptibility for complex kidney diseases remains a challenge.
  • Various genetic analysis strategies are being employed.

Conclusions:

  • Understanding the genetic architecture of kidney diseases is crucial for developing targeted therapies.
  • Complementary genetic approaches are essential for comprehensive genetic discovery.
  • Continued research and resource development are needed to unravel the genetic basis of renal disorders.

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