Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.
Mark D ElliottMaddalena MarasàEnrico CocchiNatalie VenaJun Y ZhangAtlas KhanSarath Krishna MurthyShiraz BhedaHila Milo RasoulyGundula PovysilKrzysztof KirylukAli G GharaviPublished in: Journal of the American Society of Nephrology : JASN (2023)
In this genetically matched cohort, high-risk APOL1 genotypes were associated with an increased risk of kidney failure and eGFR decline rate, with a graded risk between specific high-risk genotypes and a lower rate of monogenic kidney disease. Rare missense variants in the inflammasome pathway may act as genetic modifiers of APOL1 effect on kidney disease.