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APOL1-Associated Kidney Disease in Brazil
Cristian Riella1, Tobias A Siemens2, Minxian Wang3
1Division of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Kidney International Reports
|July 19, 2019
Summary
Apolipoprotein L-1 (APOL1) risk variants significantly increase end-stage kidney disease (ESKD) risk in Brazilians of African ancestry. Carriers of two APOL1 risk alleles initiated dialysis 12 years earlier, indicating a more aggressive disease.
Area of Science:
- Genetics
- Nephrology
- Population Health
Background:
- Apolipoprotein L-1 (APOL1) coding variants are linked to end-stage kidney disease (ESKD) in African Americans.
- APOL1's impact on kidney disease is established in African and African American populations.
- The APOL1 gene's role in kidney disease among South America's 130 million individuals of African ancestry remains unexplored.
Purpose of the Study:
- To investigate the association between APOL1 risk variants and end-stage kidney disease (ESKD) in Brazilian individuals of African ancestry.
- To determine the frequency of APOL1 risk alleles in Brazilian hemodialysis patients and compare it to healthy relatives.
- To analyze the relationship between APOL1 variants and the age of dialysis initiation.
Main Methods:
- A case-control study was conducted involving 106 Brazilian hemodialysis (HD) patients with African ancestry.
- APOL1 genotype was tested and risk allele frequency compared with 106 healthy first-degree relatives.
- A linear mixed model was used to calculate the association of risk alleles with ESKD, adjusting for relatedness and confounders. A broader survey analyzed 274 HD patients.
Main Results:
- Two APOL1 risk alleles were found to be 10 times more common in patients with ESKD compared to controls (9.4% vs. 0.9%).
- Carriers of two APOL1 risk alleles initiated dialysis an average of 12 years earlier than those with zero risk alleles.
- APOL1 risk variants were less frequent in Brazilian dialysis patients than in US populations, but still significantly associated with ESKD.
Conclusions:
- APOL1 risk variants are associated with a 10-fold increased odds of end-stage kidney disease (ESKD) in Brazilians of African ancestry.
- The earlier age of dialysis initiation in carriers of two risk alleles suggests a more aggressive kidney disease phenotype.
- The Brazilian population offers a unique opportunity to study genetic modifiers and environmental factors influencing APOL1-associated kidney disease.
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