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Clinical Phenotype of APOL-1 Nephropathy in Young Relatives of Patients with End Stage Renal Disease #MMPMID25530085
AnyaegbuI EI; Shaw AS; Hruska KA; Jain S
Pediatr Nephrol 2015[Jun]; 30 (6): 983-9 PMID25530085show ga
Background: Two coding variants, G1 and G2, in the apolipoprotein L-1 (APOL1) gene are associated with increased incidence of ESRD in the adult African American population. These variants associate with hypertension attributed renal disease, focal segmental glomerulosclerosis and HIV associated nephropathy. We hypothesized that as a genetic disease, APOL1 nephropathy has a pediatric phenotype. Methods: We investigated the incidence of APOL1 variants in young African Americans with hypertension or focal segmental glomerulosclerosis and a family history of end stage renal disease by conducting a case-control study of 93 pediatric and young adult African Americans with hypertension or focal segmental glomerulosclerosis to determine the association with APOL1 risk variants, G1 and G2, using custom made TaqMan based allelic discrimination assays. Results: Forty of the 61 cases (66%) with a family history of kidney disease had two APOL-1 risk variants, significantly higher than the prevalence in the case controls and the general African American population (p < 0.001). 24/29 patients with hypertension attributed kidney disease had two APOL1 risk variants while none of nine hypertensive patients without kidney disease had more than one risk allele. Conclusions: Although a small cohort, our findings strongly suggest for the first time that 2 APOL1 risk alleles in hypertensive young African Americans with a family history of ESRD are strongly associated with kidney disease.