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. 2021 Oct 12;7(3):474-482.
doi: 10.1016/j.ekir.2021.09.018. eCollection 2022 Mar.

APOL1 Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese Population-Based Study

Mannix Imani Masimango  1   2 , Michel Jadoul  2 , Elizabeth A Binns-Roemer  3 , Victor A David  3 , Ernest Kiswaya Sumaili  4 , Cheryl A Winkler  3 , Sophie Limou  3   5   6
Affiliations

APOL1 Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese Population-Based Study

Mannix Imani Masimango et al. Kidney Int Rep. .

Abstract

Introduction: APOL1, GSTM1 risk variants, and sickle cell trait (SCT) are associated with chronic kidney disease (CKD) among African Americans (AAs). Nevertheless, such evidence remains scarce in sub-Saharan Africa (SSA) populations.

Methods: In a cross-sectional study, we evaluated the prevalence of these risk variants and their association with estimated glomerular filtration rate (eGFR), albuminuria, and CKD in urban (n = 587) and rural (n = 730) adults from South-Kivu, DR Congo (DRC). Furthermore, we evaluated APOL1 recessive model (high risk [HR] vs. low risk [LR]), SCT carriage, and the active versus inactive GSTM1 genotypes.

Results: The frequencies of the APOL1 G1 and G2 alleles were 8.7% and 9.1%, respectively, and 3.2% carried the HR genotype. SCT and GSTM1 null allele frequencies were 3.8% and 51.2%, respectively. APOL1 HR was associated with lower eGFR (P = 0.047, odds ratio [OR] = 4). Individuals with SCT exhibited lower eGFR (P = 0.018), higher albuminuria (P = 0.032), and 2.4× increased risk of CKD (P = 0.031). APOL1 HR and SCT were synergistically associated with lower eGFR (P interaction = 0.012). The GSTM1 null allele was not significantly associated with any renal outcomes.

Conclusion: Our study highlighted the impact of APOL1 and SCT variants on poorer renal outcomes in the DRC and advocates for further genetic studies in SSA settings.

Keywords: APOL1; DR Congo; GSTM1; SCT; prevalence; renal risk.

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