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Apolipoprotein L1 Variants and Blood Pressure Traits in African Americans
Girish N Nadkarni1, Geneviève Galarneau1, Stephen B Ellis1
1Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
Insights
African Americans with APOL1 risk variants have higher systolic blood pressure (SBP) and are diagnosed with hypertension earlier. This association between APOL1 risk alleles and blood pressure traits follows an additive model.
Area of Science:
- Genetics
- Cardiovascular Health
- Nephrology
Background:
- African Americans (AA) experience disproportionate hypertension health disparities.
- Apolipoprotein L1 (APOL1) risk variants are linked to kidney disease in hypertensive AA individuals.
Purpose of the Study:
- To investigate the association between APOL1 risk alleles and blood pressure traits in African Americans.
- To determine if APOL1 variants influence hypertension development and progression in this population.
Main Methods:
- Utilized a discovery cohort (5,204 AA participants) and replication cohorts (BioMe, BioVU, NUgene) for a total of 7,436 AA participants.
- Genotyped APOL1 G1 and G2 risk alleles and analyzed their association with blood pressure traits using meta-analysis under additive and recessive models.
- Adjusted for covariates including age, sex, body mass index, and estimated glomerular filtration rate.
Main Results:
- APOL1 risk alleles were significantly associated with higher systolic blood pressure (SBP) and diastolic blood pressure (DBP) in AA individuals.
- Individuals with APOL1 risk alleles were diagnosed with hypertension 2-5 years earlier.
- An additive model best described the relationship, with each additional risk variant copy associated with increased SBP, particularly in younger age groups.
Conclusions:
- APOL1 risk alleles are associated with elevated SBP and earlier hypertension diagnosis in young African Americans.
- The findings suggest an additive genetic model for APOL1's impact on blood pressure.
- This highlights the importance of considering APOL1 genetics in managing hypertension and related disparities in AA populations.
Background:
African Americans (AA) are disproportionately affected by hypertension-related health disparities. Apolipoprotein L1 (APOL1) risk variants are associated with kidney disease in hypertensive AAs.
Objectives:
This study assessed the APOL1 risk alleles' association with blood pressure traits in AAs.
Methods:
The discovery cohort included 5,204 AA participants from Mount Sinai's BioMe biobank. Replication cohorts included additional BioMe (n = 1,623), Vanderbilt BioVU (n = 1,809), and Northwestern NUgene (n = 567) AA biobank participants. Single nucleotide polymorphisms determining APOL1 G1 and G2 risk alleles were genotyped in BioMe and imputed in BioVU/NUgene participants. APOL1 risk alleles' association with blood pressure-related traits was tested in the discovery cohort, a meta-analysis of replication cohorts, and a combined meta-analysis under recessive and additive models after adjusting for age, sex, body mass index, and estimated glomerular filtration rate.
Results:
There were 14% to 16% of APOL1 variant allele homozygotes (2 copies of G1/G2) across cohorts. APOL1 risk alleles were associated under an additive model with systolic blood pressure (SBP) and age at diagnosis of hypertension, which was 2 to 5 years younger in the APOL1 variant allele homozygotes (Cox proportional hazards analysis, p value for combined meta-analysis [pcom] = 1.9 × 10-5). APOL1 risk alleles were associated with overall SBP (pcom = 7.0 × 10-8) and diastolic blood pressure (pcom = 2.8 × 10-4). After adjustment for all covariates, those in the 20- to 29-year age range showed an increase in SBP of 0.94 ± 0.44 mm Hg (pcom = 0.01) per risk variant copy. APOL1-associated estimated glomerular filtration rate decline was observed starting a decade later in life in the 30- to 39-year age range.
Conclusions:
APOL1 risk alleles are associated with higher SBP and earlier hypertension diagnoses in young AAs; this relationship appears to follow an additive model.
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