Genome-Wide Epistatic Interaction between DEF1B and APOL1 High-Risk Genotypes for Chronic Kidney Disease

CKD disproportionately affects Black and Hispanic/Latino individuals. APOL1 risk variants are common in individuals of recent African ancestry and explain some disparities. However, not all individuals with APOL1 high-risk genotypes develop CKD, suggesting gene-environment and gene-gene (epistatic) modifiers. Prior genetic studies studying single nucleotide polymorphism (SNP) interactions with APOL1 risk genotypes were limited by small sample sizes and did not identify genome-wide significant interactions. We conducted a genome-wide SNP-APOL1 interaction analysis using two large datasets with genetic and phenotypic data