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Published on: June 8, 2022
Apolipoprotein L1 (APOL1) and Nephropathy.
Alanis Yael Szyferman1, Soledad Kleppe1, Fabrizio Cristiano2
1Research Department. Universidad del Hospital Italiano de Buenos Aires, Argentina.
Genetic variations in the Apolipoprotein L1 (APOL1) gene contribute to end-stage renal disease (ESRD) disparities in Black individuals. While APOL1 risk alleles increase susceptibility, other factors influence disease development, indicating incomplete penetrance.
Area of Science:
- Nephrology
- Genetics
- Public Health
Background:
- End-stage renal disease (ESRD) disproportionately affects Black individuals and older adults globally.
- The Apolipoprotein L1 (APOL1) gene, prevalent in African ancestry populations, is a significant genetic factor in this disparity.
- Understanding APOL1's role is crucial for addressing kidney disease inequities.
Purpose of the Study:
- To conduct a narrative review on the current understanding of APOL1.
- To elucidate the complex role of APOL1 in kidney disease pathogenesis.
- To explore the genetic contributions to ESRD disparities.
Main Methods:
- Narrative review of existing literature.
- Analysis of genetic associations with kidney disease.
- Examination of APOL1 risk alleles (G1 and G2).
Main Results:
- APOL1 G1 and G2 risk alleles are linked to increased non-diabetic chronic kidney disease (CKD) risk in homozygous/compound heterozygous individuals.
- Associated CKD types include hypertensive nephropathy, focal segmental glomerulosclerosis, and HIV-associated nephropathy.
- Incomplete penetrance is suggested, as most African Americans with two risk alleles do not develop kidney disease, implying additional factors and 'second hits' are involved.
Conclusions:
- APOL1 gene variations significantly influence susceptibility to ESRD in individuals of African ancestry.
- Mechanisms of renal damage may involve altered ion transport and mitochondrial dysfunction.
- Further research is needed to understand the interplay of APOL1 and other factors in kidney disease development.
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