title: APOL1 kidney risk alleles: population genetics and disease associations.
abstract: 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.
authors.affiliation: Basic Science Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Leidos Biomedical Research Inc., Frederick National Laboratory, Frederick, MD; and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.
authors.forename: Sophie
authors.initials: S
authors.lastname: Limou
authors.affiliation: Basic Science Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Leidos Biomedical Research Inc., Frederick National Laboratory, Frederick, MD; and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.
authors.forename: George W
authors.initials: GW
authors.lastname: Nelson
authors.affiliation: Basic Science Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Leidos Biomedical Research Inc., Frederick National Laboratory, Frederick, MD; and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD.
authors.forename: Jeffrey B
authors.initials: JB
authors.lastname: Kopp
authors.affiliation: Basic Science Program, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Leidos Biomedical Research Inc., Frederick National Laboratory, Frederick, MD; and Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD. Electronic address: winklerc@mail.nih.gov.
authors.forename: Cheryl A
authors.initials: CA
authors.lastname: Winkler
mesh_terms: D016263:AIDS-Associated Nephropathy / Q000235:genetics; D017954:Africa South of the Sahara / Q000208:ethnology; D000075944:Apolipoprotein L1; D001053:Apolipoproteins / Q000235:genetics*; D044383:Black People / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008075:Lipoproteins, HDL / Q000235:genetics*; D008181:Lupus Nephritis / Q000235:genetics; D051436:Renal Insufficiency, Chronic / Q000235:genetics*
chemical_list: C108666:APOL1 protein, human; D000075944:Apolipoprotein L1; D001053:Apolipoproteins; D008075:Lipoproteins, HDL
keywords: APOL1 demographics; African admixture; Apolipoprotein L1; Chronic kidney disease; Glomerular disease