Low prevalence of apolipoprotein L1 gene variants in Black South Africans with hypertension-attributed chronic kidney disease .

Abstract

Variants in apolipoprotein L1 (APOL1) gene were shown to be associated with higher rates of nondiabetic kidney disease in black patients compared with white patients. Frequencies of these variants differ substantially in African populations, suggesting that their contribution to kidney disease might differ. We determined the frequency and association of (APOL1) risk alleles with markers of kidney disease in black South Africans with hypertension-attributed chronic kidney disease (CKD) and their first-degree relatives. Black patients with hypertension-attributed CKD with an estimated glomerular filtration rate (eGFR) ≤ 60 mL/min/1.73m2 were included, together with their first-degree relatives. G1 (rs60910145 and rs73885319) and G2: rs71785313 single nucleotide polymorphisms were genotyped by restriction fragment length polymorphism. Similar to previous association studies, we mainly tested recessive genetic models. The allele frequencies of both the G1 and G2 (APOL1) risk alleles were similar amongst all the groups. There was no difference in the two-risk-allele frequency in CKD patients (10%) compared to controls (8.6%), p = 0.790. Carriage of two (APOL1) risk alleles (vs. zero or one risk allele) was not a predictor of hypertension-attributed CKD (OR, 0.85; 95% CI, 0.25 - 2.83; p = 0.790). Patients with CKD and first-degree relatives with and without (APOL1) risk alleles had statistically indistinguishable blood pressures, creatinine and HDL-cholesterol levels. Apolipoprotein L1 risk variants are present in black South Africans with similar frequencies between CKD patients, first-degree relatives, and healthy controls. The lack of association of these variants with hypertension-attributed CKD in this population needs to be explored further in studies with larger sample sizes. .