Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.

ABSTRACT:

Significance statement

APOL1 high-risk genotypes confer a significant risk of kidney disease, but variability in patient outcomes suggests the presence of modifiers of the APOL1 effect. We show that a diverse population of CKD patients with high-risk APOL1 genotypes have an increased lifetime risk of kidney failure and higher eGFR decline rates, with a graded risk among specific high-risk genotypes. CKD patients with high-risk APOL1 genotypes have a lower diagnostic yield for monogenic kidney disease. Exome sequencing revealed enrichment of rare missense variants within the inflammasome pathway modifying the effect of APOL1 risk genotypes, which may explain some clinical heterogeneity.

Background

APOL1 genotype has significant effects on kidney disease development and progre

SUBMITTER: Elliott MD 

PROVIDER: S-EPMC10125632 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature