Kidney360 · 2026
APOL1 Risk Genotypes and Sickle Cell Trait are Associated with Kidney Disease Progression in an Afro-Brazilian Population.
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Alladagbin Dona Jeanne, Lima Vitória Brito Fontoura, Tavares Maria B, Amorim Boa Sorte Tatiana Regia Suzana, Khouri Nadia de A, da Luz Neto Epitácio R, Dos Santos Naiara R, Viana Debora L, Brito Jean Tadeu, Silva Luciano Kalabric, Silva de Oliveira Adne Geisla, Ribeiro Guilherme S, Regis-Silva Carlos Gustavo, Gonçalves Marilda S, Oliveira Geraldo G S, Dos-Santos Washington L C
Аннотация
BACKGROUND: Apolipoprotein L1 (APOL1) risk alleles and sickle cell trait (HbAS) are established risk factors for CKD, but their distribution and clinical impact in admixed populations remain incompletely defined. We conducted a Brazilian population-based study integrating APOL1 genotypes, sickle cell trait, kidney histopathology, and longitudinal clinical outcomes.
METHODS: We studied 889 newborns from a population-based survey and 424 patients with biopsy-proven kidney disease. APOL1 genotypes and hemoglobin variants were determined by PCR-based sequencing and high-performance liquid chromatography, and their associations with histopathologic chronicity markers and clinical outcomes were evaluated.
RESULTS: The prevalence of the APOL1 high-risk genotype was higher among patients than among the general population (4.7% vs. 1.2%; P < 0.001), whereas HbAS frequency was similar in both groups (4.7%). Among patients, the APOL1 high-risk genotype was associated with greater histopathologic chronicity, including increased tubular atrophy and interstitial fibrosis. A progressive increase in the frequency of progression to ESKD was observed in accordance with the number of APOL1 risk alleles (10%, 14%, and 56% for individuals carrying 0, 1, and 2 risk alleles, respectively; p < 0.001). Progression to ESKD was more frequent among individuals with sickle cell trait than among those with HbAA (39% vs. 13%; p = 0.01). Under univariate analysis, carrying two APOL1 alleles (RR = 4.8; 95% CI: 2.8, 8.4; p < 0.001) or possessing the sickle cell trait (RR = 2.7; 95% CI: 1.4, 5.1; p = 0.03) were significantly associated with the composite outcome of ESKD or death.
CONCLUSIONS: In this Afro-Brazilian population, APOL1 high-risk genotypes were enriched among individuals with kidney disease, whereas sickle cell trait prevalence resembled that of the general population. Both APOL1 risk alleles and sickle cell trait were associated with adverse kidney outcomes, highlighting their clinical relevance in admixed populations.
METHODS: We studied 889 newborns from a population-based survey and 424 patients with biopsy-proven kidney disease. APOL1 genotypes and hemoglobin variants were determined by PCR-based sequencing and high-performance liquid chromatography, and their associations with histopathologic chronicity markers and clinical outcomes were evaluated.
RESULTS: The prevalence of the APOL1 high-risk genotype was higher among patients than among the general population (4.7% vs. 1.2%; P < 0.001), whereas HbAS frequency was similar in both groups (4.7%). Among patients, the APOL1 high-risk genotype was associated with greater histopathologic chronicity, including increased tubular atrophy and interstitial fibrosis. A progressive increase in the frequency of progression to ESKD was observed in accordance with the number of APOL1 risk alleles (10%, 14%, and 56% for individuals carrying 0, 1, and 2 risk alleles, respectively; p < 0.001). Progression to ESKD was more frequent among individuals with sickle cell trait than among those with HbAA (39% vs. 13%; p = 0.01). Under univariate analysis, carrying two APOL1 alleles (RR = 4.8; 95% CI: 2.8, 8.4; p < 0.001) or possessing the sickle cell trait (RR = 2.7; 95% CI: 1.4, 5.1; p = 0.03) were significantly associated with the composite outcome of ESKD or death.
CONCLUSIONS: In this Afro-Brazilian population, APOL1 high-risk genotypes were enriched among individuals with kidney disease, whereas sickle cell trait prevalence resembled that of the general population. Both APOL1 risk alleles and sickle cell trait were associated with adverse kidney outcomes, highlighting their clinical relevance in admixed populations.