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APOL1 Nephropathy: From Genetics to Clinical Applications
David J Friedman1, Martin R Pollak
1Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.
Summary
Genetic variants in the apolipoprotein L1 (APOL1) gene explain higher rates of severe kidney disease in Black individuals. These APOL1 risk variants are linked to increased risks of hypertension-associated kidney disease and other serious kidney conditions.
Area of Science:
- Nephrology
- Genetics
- Population Health
Background:
- Severe kidney disease disproportionately affects Black individuals compared to other ethnic groups.
- Genetic variants in the apolipoprotein L1 (APOL1) gene, prevalent in individuals with recent African ancestry, are a significant contributor to this disparity.
- These APOL1 variants are associated with increased risk for various kidney conditions, including hypertension-associated end-stage kidney disease (ESKD), focal segmental glomerulosclerosis (FSGS), and HIV-associated nephropathy.
Purpose of the Study:
- To explore the population genetics of APOL1 risk variants.
- To describe the clinical spectrum of APOL1-associated nephropathy.
- To address clinical considerations for nephrologists managing patients with potential APOL1 kidney disease.
Main Methods:
- Review of population genetics data concerning APOL1 risk variants.
- Analysis of the clinical presentation and progression of APOL1 nephropathy.
- Discussion of clinical management strategies for APOL1 kidney disease.
Main Results:
- APOL1 risk variants are found almost exclusively in individuals with recent African ancestry.
- These variants significantly elevate the risk of developing specific kidney diseases, independent of other factors.
- A defined clinical spectrum of APOL1 nephropathy has been identified.
Conclusions:
- APOL1 gene variants are a primary driver of kidney disease disparities in Black populations.
- Understanding APOL1 genetics and its clinical manifestations is crucial for effective patient care.
- Nephrologists require specific knowledge to diagnose and manage APOL1-associated kidney disease.
Keywords:
APOL1APOL1 proteinAfrican AmericansApolipoprotein L1Focal SegmentalGeneticsGlomerulosclerosisHIV-Associated NephropathyKidney Genomics SeriesPopulationchronic kidney diseasediabetes mellitusgenetic kidney diseasehumanhypertensionkidneyMore Related Videos
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