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

Introduction: , 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 recessive model (high risk [HR] vs. low risk [LR]), SCT carriage, and the active versus inactive genotypes.

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

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