Population genetics articles within Nature Reviews Nephrology

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• News & Views | 13 December 2019

  CUBN variants uncouple proteinuria from kidney function

  A new study links pathogenic cubilin gene (CUBN) variants to proteinuria without progressive renal impairment, providing reassurance for a subset of patients, calling into question the accepted pathogenesis of glomerulosclerosis and suggesting future therapeutic options.

  • Catherine Quinlan

• News & Views | 22 March 2019

  Introducing routine genetic testing for patients with CKD

  Chronic kidney disease (CKD) is often clinically silent and traditional clinical data alone cannot differentiate disease subtypes. A recent study of the genetic basis of CKD in adults that examined the prevalence of monogenic kidney disease aetiologies supports the use of genetic analysis to improve diagnostics and treatment in CKD.

  • Asaf Vivante
  •  & Karl Skorecki

• Opinion | 26 February 2013

  APOL1 variants and kidney disease in people of recent African ancestry

  Variants in two neighbouring genes,APOL1 and MYH9, have previously been associated with kidney disease. Here, using 1000 genomes data, the authors reason by exclusion that the APOL1variants are in fact the most likely causal variants involved in kidney disease, and that this genomic region should be targeted in future studies to determine function.

  • Giulio Genovese
  • , David J. Friedman
  •  & Martin R. Pollak

• Review Article | 03 May 2011

  The population genetics of chronic kidney disease: insights from the MYH9–APOL1 locus

  Population-based genetic studies initially identifiedMYH9as a major susceptibility locus for diabetes-unrelated kidney diseases in persons of West African ancestry, but further research found more strongly associated mutations in the neighboring APOL1 gene. This Review describes how evolutionary selection pressure of an infectious pathogen in West Africa favored the spread of APOL1 variants that protect against a lethal form of African sleeping sickness but are associated with an increased risk of kidney disease. The authors discuss lessons that can be learned for future population genetics research.

  • Saharon Rosset
  • , Shay Tzur
  •  & Karl Skorecki