The G1 and G2 APOL1 risk alleles are important risk factors for chronic kidney disease (CKD) among Black Americans; however, the genetic risk of CKD associated with APOL1 variants among individuals living in West Africa — the ancestral origin of most Black Americans — has not been thoroughly investigated. New findings from the H3Africa Kidney Disease Research Network and presented at ASN Kidney Week 2024 show that APOL1 risk variants are also important risk factors for the development and progression of CKD among individuals living in Ghana and Nigeria.

This case–control study included 8,355 participants, 5,578 of whom had CKD. Forty-three per cent of all participants carried one APOL1 risk allele and 29.7% carried two. Individuals with two APOL1 risk alleles had a 25% higher chance of CKD than individuals with one risk allele or no risk alleles (adjusted OR 1.25; 95% CI 1.11–1.40) and an 84% higher chance of focal segmental glomerulosclerosis (FSGS; adjusted OR, 1.84; 95% CI 1.30–2.61). However, these risks were also increased among individuals with one APOL1 risk allele (18% higher chance of CKD; adjusted OR 1.18; 95% CI 1.04–1.33 and a 61% higher chance of FSGS; adjusted OR 1.61; 95% CI 1.04–2.48). Among individuals with APOL1 risk alleles, the adjusted odds ratio for CKD also increased according to CKD stage, suggesting that APOL1 risk variants are also a risk factor for disease progression.

G1 和 G2 APOL1 风险等位基因是美国黑人慢性肾病 （CKD） 的重要危险因素;然而，生活在西非（大多数美国黑人的祖先起源）的个体中与 APOL1 变异相关的 CKD 遗传风险尚未得到彻底调查。H3Africa 肾脏病研究网络在 2024 年 ASN 肾脏周上发表的新发现表明，APOL1 风险变异也是生活在加纳和尼日利亚的个体发生和进展的重要风险因素。

这项病例对照研究包括 8,355 名参与者，其中 5,578 名患有 CKD。43% 的参与者携带 1 个 APOL1 风险等位基因，29.7% 携带 2 个。具有两个 APOL1 风险等位基因的个体患 CKD 的几率比具有一个风险等位基因或无风险等位基因的个体高 25%（校正 OR 1.25;95% CI 1.11-1.40），局灶节段性肾小球硬化的几率高 84%（FSGS;校正 OR，1.84;95% CI 1.30-2.61）。然而，在具有一个 APOL1 风险等位基因的个体中，这些风险也增加（CKD 的几率高 18%;调整后的 OR 1.18;95% CI 1.04-1.33;FSGS 的几率高 61%;调整后的 OR 1.61;95% CI 1.04-2.48）。在具有 APOL1 风险等位基因的个体中，CKD 的校正比值比也根据 CKD 分期而增加，表明 APOL1 风险变异也是疾病进展的危险因素。