Apolipoprotein L1 (APOL1) risk variant toxicity depends on the haplotype background.

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ID: 67590
2019
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Abstract
The Apolipoprotein L1 (APOL1) risk variants G1 and G2 are associated with high rates of kidney disease in African Americans in genetic studies. However, our understanding of APOL1 biology has lagged far behind. Here we report that engineering G1 and G2 mutations on unnatural haplotype backgrounds instead of on the specific G1 and G2 haplotype backgrounds that occur in nature profoundly alters APOL1-mediated cytotoxicity in experimental systems. Thus, in addition to helping resolve some important controversies in the APOL1 field, our demonstration of the critical influence of haplotype background may apply more generally to the study of other genetic variants that cause or predispose to human disease.
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lannon2019apolipoproteinkidney Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Lannon, Herbert;Shah, Shrijal S;Dias, Leny;Blackler, Daniel;Alper, Seth L;Pollak, Martin R;Friedman, David J;
Journal Kidney international
Year 2019
DOI
S0085-2538(19)30777-X
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