Article
Protein-truncating variant in APOL3 increases chronic kidney disease risk in epistasis with APOL1 risk alleles.
JCI insight - 8 Oct 2024
Zhang David Y, Levin Michael G, Duda Jeffrey T, Landry Latrice G, Witschey Walter R, Damrauer Scott M, Ritchie Marylyn D, Rader Daniel J
Abstract excerpt
BACKGROUNDTwo coding alleles within the APOL1 gene, G1 and G2, found almost exclusively in individuals genetically similar to West African populations, contribute substantially to the pathogenesis of chronic kidney disease (CKD). The APOL gene cluster on chromosome 22 contains a total of 6 APOL genes that have arisen as a result of gene duplication.METHODSUsing a genome-first approach in the Penn Medicine...
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