Abstract
Two coding sequence variants in the Apolipoprotein-L1 gene APOL1 are strongly associated with an increased risk of nondiabetic kidney disease as well as progression of chronic kidney disease. Disease risk follows a largely recessive pattern of inheritance. Disease-associated genotypes are both fairly common and have a large effect on disease risk. The two disease-associated variants, referred to as G1 and G2, originated in Western Africa and provide protection against certain forms of trypanosome infection. There are multiple hypotheses regarding the mechanisms by which these variant forms of APOL1 increase the risk of kidney disease. It is clear from a variety of studies that variant APOL1 is more toxic to cells than the wild-type, or G0, form. Multiple studies are evaluating the implications of APOL1 genotype in a variety of clinical settings.
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