Ontology highlight
ABSTRACT:
SUBMITTER: Beckerman P
PROVIDER: S-EPMC5603285 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Beckerman Pazit P Bi-Karchin Jing J Park Ae Seo Deok AS Qiu Chengxiang C Dummer Patrick D PD Soomro Irfana I Boustany-Kari Carine M CM Pullen Steven S SS Miner Jeffrey H JH Hu Chien-An A CA Rohacs Tibor T Inoue Kazunori K Ishibe Shuta S Saleem Moin A MA Palmer Matthew B MB Cuervo Ana Maria AM Kopp Jeffrey B JB Susztak Katalin K
Nature medicine 20170220 4
African Americans have a heightened risk of developing chronic and end-stage kidney disease, an association that is largely attributed to two common genetic variants, termed G1 and G2, in the APOL1 gene. Direct evidence demonstrating that these APOL1 risk alleles are pathogenic is still lacking because the APOL1 gene is present in only some primates and humans; thus it has been challenging to demonstrate experimental proof of causality of these risk alleles for renal disease. Here we generated m ...[more]