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APOL1 polymorphisms and kidney disease: loss-of-function or gain-of-function?

17 Oct 2018

Abstract excerpt

The mechanism that explains the association of APOL1 variants with nondiabetic kidney diseases in African Americans remains unclear. Kidney disease risk is inherited as a recessive trait, and many studies investigating the intracellular function of APOL1 have indicated the APOL1 variants G1 and G2 are associated with cytotoxicity. Whether cytotoxicity results from the absence of a protective effect conferred by...

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PMID: 30332315
DOI: 10.1152/ajprenal.00426.2018

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