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Apolipoprotein L1 (APOL1) high-risk genotypes (G1/G1, G1/G2 or G2/G2) are associated with an increased risk of kidney disease among people of recent sub-Saharan Africa ancestry. However, there are few large-scale population-based studies which have quantified genotype frequency in East Africa.
Sustainable East Africa Research in Community Health (SEARCH, NCT01864603) was a community cluster-randomized HIV test and treat trial. Within each study community, we selected 100 households with at least one HIV-positive adult and 100 households without any HIV-positive adults. Subsequently, we randomly chose one HIV-positive and one HIV-negative adult from the respective households to participate in the SEARCH-CKD study (PMID 32130245). After obtaining informed consent, we collected dried blood spots (DBS) on filter cards to genotype for APOL1 risk variants which were defined using custom designed TaqMan® SNP genotyping assays (rs73885319 and rs60910145 for the G1 haplotype, and rs71785313 for the G2 haplotype). We used multivariable logistic regression models to assess the association of APOL1 high-risk genotypes (G1/G1, G1/G2 or G2/G2) with prevalent CKD defined as a serum creatinine-based eGFR <60 mL/min/1.73m2 or proteinuria (urine dipstick ≥1+).
We identified a relatively low prevalence of APOL1 risk variants in rural Uganda and Kenya—which strengthens the literature regarding the distinctive West-East Africa cline (high to low) in APOL1 risk allele distribution previously reported. Given the low frequency of APOL1 high-risk genotypes in East Africa, this does not appear to be a major driver of the burden of CKD in this region.