Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment

The Journal of Molecular Diagnostics : JMD
Jinglan ZhangStuart A Scott

Abstract

The incidence of chronic kidney disease (CKD) varies by ancestry, with African Americans (AA) having a threefold to fourfold higher rate than whites. Notably, two APOL1 alleles, termed G1 [c.(1072A>G; 1200T>G)] and G2 (c.1212_1217del6), are strongly associated with higher rates of nondiabetic CKD and an increased risk for hypertensive end-stage renal disease. This has prompted the opportunity to implement APOL1 testing to identify at-risk patients and modify other risk factors to reduce the progression of CKD to end-stage renal disease. We developed an APOL1 genotyping assay using multiplex allele-specific primer extension, and validated using 58 positive and negative controls. Genotyping results were completely concordant with Sanger sequencing, and both triplicate interrun and intrarun genotyping results were completely concordant. Multiethnic APOL1 allele frequencies were also determined by genotyping 7059 AA, Hispanic, and Asian individuals from the New York City metropolitan area. The AA, Hispanic, and Asian APOL1 G1 and G2 allele frequencies were 0.22 and 0.13, 0.037 and 0.025, and 0.013 and 0.004, respectively. Notably, approximately 14% of the AA population carried two risk alleles and are at increased risk for CKD, com...Continue Reading

References

Jan 1, 1994·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·C ByrneR G Luke
Jan 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN American College of Medicine Genetics Board of Directors
Mar 9, 2005·Kidney International. Supplement·Scott G SatkoShahriar Moossavi
Aug 17, 2005·Clinica Chimica Acta; International Journal of Clinical Chemistry·Sherry A Dunbar
Dec 7, 2007·Obstetrics and Gynecology·Kathy HudsonUNKNOWN American Society of Human Genetics Social Issues Committee
Aug 12, 2009·Pharmacogenomics·Stuart A ScottRobert J Desnick
May 28, 2010·Pharmacogenomics·Stuart A ScottRobert J Desnick
Aug 7, 2010·Journal of the American Society of Nephrology : JASN·Barry I FreedmanMartin R Pollak
Dec 3, 2011·Journal of the American Society of Nephrology : JASN·Derek M FineKarl Skorecki
Jun 28, 2012·Nature Reviews. Nephrology·Rachel E Patzer, William M McClellan
Jun 15, 2013·Journal of the American Society of Nephrology : JASN·Meredith C FosterW H Linda Kao
Jul 10, 2013·Nature Reviews. Genetics·Teri A Manolio
Nov 12, 2013·The New England Journal of Medicine·Afshin ParsaUNKNOWN CRIC Study Investigators
Dec 10, 2013·Nucleic Acids Research·Danielle WelterHelen Parkinson
Feb 14, 2014·The New England Journal of Medicine·George J Annas, Sherman Elias
Aug 30, 2014·Advances in Chronic Kidney Disease·Sophie LimouCheryl A Winkler
Sep 11, 2014·Pharmacogenomics and Personalized Medicine·Noura S Abul-HusnStuart A Scott
Jan 7, 2015·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Etty Kruzel-DavilaKarl Skorecki
Apr 19, 2015·Clinical Journal of the American Society of Nephrology : CJASN·Walter G Wasser, Etty Kruzel-Davila

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Citations

May 20, 2018·Journal of the American Society of Nephrology : JASN·Adrienne TinMorgan E Grams
Apr 25, 2018·Kidney International·Girish N NadkarniSteven G Coca
Dec 27, 2017·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Adebowale AdeyemoRasheed Gbadegesin
Nov 26, 2021·Frontiers in Genetics·Melanie A GovenderMichèle Ramsay

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