# The Origins of Alzheimer Disease in Individuals of African Ancestry

> **NIH NIH R56** · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · 2021 · $2,962,078

## Abstract

ABSTRACT
The goal of this proposal is to increase our understanding of the genetic etiology of Alzheimer disease (AD) risk
in understudied and underserved populations. Alzheimer disease (AD) is the leading cause of dementia in the
elderly and occurs in all ethnic and racial groups, but most genetic studies for AD have been performed in non-
Hispanic Whites (NHW) of European ancestry. The lack of diversity in AD genetics studies is problematic as
studies in African Americans (AA), who have a higher prevalence of AD compared to NHW, have differences in
risk effect sizes in known loci (e.g., APOE; ABCA7), indicating multiple unique patterns of risk. Genetic ancestry
(including variability in allele frequencies and novel variants modulating known and novel risk loci), as opposed
to only environmental/cultural factors, likely underlies at least part of this heterogeneity. With only a small number
of the whole genome sequences in the Alzheimer’s Disease Sequencing Project coming from AA, better
characterization of the genetic risk for AD requires increased sample sizes for individuals of African (AF)
ancestry. To understand the totality of AD risk, we need to elucidate the pan-population genetic architecture of
AD as it will enhance our understanding of the genotype to phenotype relationships for AD, and provide the
bases for identifying druggable targets. Using ancestral populations, such as those from Africa, to study risk
modifiers is critical to dissecting risk not only in those populations but also among all populations with AF
ancestry. Our efforts will allow for improved disease prediction, prevention, diagnosis, and treatment through
precision medicine, in AA, AF, and other AF admixed populations (e.g. Caribbean Hispanics). We will accomplish
these goals through the following: 1.) expanding existing and recruiting new AA multiplex families for family-
based discovery of AD risk loci, 2.) increasing the number of available AA brains for functional studies, 3.)
determining the AF origins of genetic variation in AD, 4.) Extending genomic analysis of AD to include
cardiovascular phenotypes, 5.) Evaluating the molecular and genomic function of known AD associated variants
(e.g., ABCA7) as well as significant variants identified through this project.

## Key facts

- **NIH application ID:** 10356488
- **Project number:** 1R56AG072547-01
- **Recipient organization:** UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
- **Principal Investigator:** GOLDIE S. BYRD
- **Activity code:** R56 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $2,962,078
- **Award type:** 1
- **Project period:** 2021-04-01 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10356488

## Citation

> US National Institutes of Health, RePORTER application 10356488, The Origins of Alzheimer Disease in Individuals of African Ancestry (1R56AG072547-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10356488. Licensed CC0.

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