APOL1 kidney risk alleles: population genetics and disease associations

Adv Chronic Kidney Dis. 2014 Sep;21(5):426-33. doi: 10.1053/j.ackd.2014.06.005.


APOL1 kidney disease is a unique case in the field of the genetics of common disease: 2 variants (termed G1 and G2) with high population frequency have been repeatedly associated with nondiabetic CKDs, with very strong effect size (odds ratios 3-29) in populations of sub-Saharan African descent. This review provides an update on the spectrum of APOL1 kidney disease and on the worldwide distribution of these kidney risk variants. We also summarize the proper way to run a recessive analysis on joint and independent effects of APOL1 G1 and G2 kidney risk variants.

Keywords: APOL1 demographics; African admixture; Apolipoprotein L1; Chronic kidney disease; Glomerular disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • AIDS-Associated Nephropathy / genetics
  • Africa South of the Sahara / ethnology
  • African Continental Ancestry Group / genetics*
  • Apolipoprotein L1
  • Apolipoproteins / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genetics, Population
  • Glomerulosclerosis, Focal Segmental / genetics
  • Haplotypes
  • Humans
  • Lipoproteins, HDL / genetics*
  • Lupus Nephritis / genetics
  • Renal Insufficiency, Chronic / genetics*


  • APOL1 protein, human
  • Apolipoprotein L1
  • Apolipoproteins
  • Lipoproteins, HDL