Diagnostic Yield of APOL1 P.n264k Variant Screening in Daily Practice

Observational and case-control studies in large American cohorts of individuals of African ancestry with available genetic information have demonstrated a strong protective effect of the p.N264K variant of APOL1 on the risk of chronic kidney disease (CKD), focal segmental glomerulosclerosis (FSGS), and end-stage kidney disease 1,2. This variant is only effective in the presence of the high-risk, African, G2 haplotype, i.e. in homozygous G2/G2 or composite heterozygous G1/G2 patients, and is never observed in patients carrying the high-risk G1/G1 genotype.