NIH R01 · 2025
APOL1 Nephropathy: Linking Genetics and Mechanisms
SUMMARY: Two coding variants (G1 and G2, also referred to as "risk variants" or RV) in the APOL1 gene account for much of the high rate of kidney disease in people of recent African ancestry. Evidence supports the idea that APOL1 risk variants (RV) promote kidney disease through toxic, gain-of-function activity despite a largely recessive pattern of risk inheritance. Investigators have speculated that recessive gain-of-function toxicity may be due to a dose threshold requiring two risk alleles or alternatively a “G0 rescue” model where G0 can protect against the toxic effect of the risk variants, potentially via direct interaction. The work proposed here will provide insight into this…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.