APOL1 at 10 years: progress and next steps.

Barry I Freedman, Jeffrey B Kopp, Matthew G Sampson, Katalin Susztak

Journal: Kidney international 2021;99(6):1296-1302

PMID: 33794228

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Abstract

APOL1 kidney risk variants (RVs) were identified in 2010 as major drivers of glomerular, tubulointerstitial, and renal microvascular disease in individuals with sub-Saharan African ancestry. In December 2020, the "APOL1 at Ten" conference summarized the first decade of progress and discussed controversies and uncertainties that remain to be addressed. Topics included trypanosome infection and its role in the evolution of APOL1 kidney RVs, clinical phenotypes in APOL1-associated nephropathy, relationships between APOL1 RVs and background haplotypes on cell injury and molecular mechanisms initiating disease, the role of clinical APOL1 genotyping, and development of novel therapies for kidney disease. Future goals were defined, including improved characterization of various APOL1 RV phenotypes in patients and experimental preclinical models; further dissection of APOL1-mediated pathways to cellular injury and dysfunction in kidney (and other) cells; clarification of gene-gene and gene-environment interactions; and evaluation of the role for existing and novel therapies.

Address: Section on Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.; Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland, USA.; Division of Pediatric Nephrology, Boston Children's Hospital, Boston, Massachusetts, USA; Harvard Medical School, Boston, Massachusetts, USA; Broad Institute, Cambridge, Massachusetts, USA.; Renal Electrolyte and Hypertension Division, Department of Medicine, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA; Department of Genetics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA; Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA. Electronic address: [email protected].

DOI: 10.1016/j.kint.2021.03.013

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Full Text Sources:

Medical:

https://medlineplus.gov/kidneydiseases.html

Other Literature Sources:

https://scite.ai/reports/33794228

Miscellaneous:

https://assays.cancer.gov/non-CPTAC-2628

MeSH Terms: Apolipoprotein L1, Genetic Predisposition to Disease, Haplotypes, Humans, Kidney, Kidney Diseases