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Histopathologies Associated With APOL1 Genetic Variants

Kopp, Jeffrey B., MD*,†; Rosenberg, Avi Z., MD, PhD*,†

Advances in Anatomic Pathology: May 2019 - Volume 26 - Issue 3 - p 215–219
doi: 10.1097/PAP.0000000000000221
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Genetic variants in APOL1, encoding apolipoprotein L1, are major drivers of glomerular disease in peoples of sub-Saharan African descent. APOL1-associated primary glomerular diseases include focal segmental glomerulosclerosis, human immunodeficiency virus-associated nephropathies, and arterionephrosclerosis. Other conditions where APOL1 variants affect outcomes include membranous nephropathy, lupus nephritis, diabetic nephropathy, preeclampsia, and kidney transplant. In focal segmental glomerulosclerosis, APOL1 variants are associated with upregulation of RNA encoding chemokine C-X-C motif receptor 3 ligands and ubiquitin D; the significance of these findings remains unclear but may provide valuable insight into disease mechanisms.

*Kidney Diseases Branch, NIDDK, NIH, Bethesda

Department of Pathology, Johns Hopkins Medical Institutions, Baltimore, MD

Supported in part by the Intramural Research Program, NIDDK, NIH via project ZO1 DK043308 (J.B.K.) and the National Kidney Foundation of the National Capital Area, Joseph M. Krainin, MD, Memorial Young Investigator Award (A.Z.R).

The authors have no conflicts of interest to disclose.

Reprints: Jeffrey B. Kopp, MD, 10 Center Dr., 3N116, NIH, Bethesda, MD 20892-1268 (e-mail: jbkopp@nih.gov).

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