# Genetic underpinnings of cardiorenal risk in Africans and African Americans

> **NIH NIH R01** · UNIVERSITY OF ALABAMA AT BIRMINGHAM · 2020 · $710,538

## Abstract

ABSTRACT
Hypertension (HTN) has earlier onset and takes on a more severe form in African Americans (AAs) as
compared to other U.S. populations, which translates to higher rates of cardiovascular disease (CVD)
endpoints including stroke and end stage renal disease. The rates of related comorbidities including type 2
diabetes (T2D) and chronic kidney disease (CKD) are also higher in AAs. These remarkable disparities equate
to important consequences for the health of AA communities. Emerging data suggest genetic markers
originating in Africa incur disease risk in this population. Prior genetic association studies of HTN, T2D, and
CKD have been undertaken in AAs. However, the ancestral genetic variation coverage and sample sizes that
have been achieved in genetic studies of European Ancestry populations have not yet been achieved for
African ancestry populations. Additionally, a direct comparison of risk alleles between AA and African
populations has yet to be made. To address these important research gaps, we propose a study that
substantially expands the number of AAs with relevant phenotype and genotype data and dramatically
improves the coverage of African specific genetic variation in a large number of AAs belonging to existing
cardiovascular epidemiology cohorts. We propose genotyping 8000 AAs from the REasons for Geographic and
Racial Differences in Stroke (REGARDS) study and 2000 West Africans from the Human Health and Heredity
in Africa (H3A) Kidney Network, newly bringing these 10,000 participants into genetic studies. We will combine
these data with existing genotype data from 2000 H3A participants and recently generated high-coverage
whole genome sequence (WGS) data on ~6500 AAs, with relevant phenotype data, from the NHLBI’s Trans-
Omics for Precision Medicine (TOPMed) program. The TOPMed WGS data will be further used to impute
sequence variants into REGARDS, H3A and the ~15,000 previously genotyped AA participants from other
NHLBI cohorts. We will use these unprecedented resources to conduct the most comprehensive study of
cardiorenal traits (blood pressure, renal function, fasting glucose) in AAs to date. We will follow up our top
variant-association findings in an independent replication sample of 11,000 AAs with relevant data. Finally, we
will test whether variants associated with these risk factors are also associated with CVD outcomes. Our
proposed study, including a total of ~40,500 AAs and 4000 West Africans, will provide us an unprecedented
opportunity to evaluate the role of genetic variation, and in particular African-derived genetic variation, in the
increased susceptibility to CVD and renal disease in AAs.
!

## Key facts

- **NIH application ID:** 9895474
- **Project number:** 5R01HL136666-04
- **Recipient organization:** UNIVERSITY OF ALABAMA AT BIRMINGHAM
- **Principal Investigator:** Marguerite R Irvin
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $710,538
- **Award type:** 5
- **Project period:** 2017-04-01 → 2022-02-28

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9895474

## Citation

> US National Institutes of Health, RePORTER application 9895474, Genetic underpinnings of cardiorenal risk in Africans and African Americans (5R01HL136666-04). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9895474. Licensed CC0.

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