Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2023 Aug 9;12(16):5189.
doi: 10.3390/jcm12165189.

Genetics of Alzheimer's Disease in the African American Population

Mark W Logue  1   2   3   4 , Shoumita Dasgupta  3   5 , Lindsay A Farrer  3   4   6   7   8   9
Affiliations
Review

Genetics of Alzheimer's Disease in the African American Population

Mark W Logue et al. J Clin Med. .

Abstract

Black/African American (AA) individuals have a higher risk of Alzheimer's disease (AD) than White non-Hispanic persons of European ancestry (EUR) for reasons that may include economic disparities, cardiovascular health, quality of education, and biases in the methods used to diagnose AD. AD is also heritable, and some of the differences in risk may be due to genetics. Many AD-associated variants have been identified by candidate gene studies, genome-wide association studies (GWAS), and genome-sequencing studies. However, most of these studies have been performed using EUR cohorts. In this paper, we review the genetics of AD and AD-related traits in AA individuals. Importantly, studies of genetic risk factors in AA cohorts can elucidate the molecular mechanisms underlying AD risk in AA and other populations. In fact, such studies are essential to enable reliable precision medicine approaches in persons with considerable African ancestry. Furthermore, genetic studies of AA cohorts allow exploration of the ways the impact of genes can vary by ancestry, culture, and economic and environmental disparities. They have yielded important gains in our knowledge of AD genetics, and increasing AA individual representation within genetic studies should remain a priority for inclusive genetic study design.

Keywords: AKAP9; APOE; African American; Alzheimer disease; candidate gene studies; genetics; genome-wide association studies; genomic/exomic sequencing; polygenic risk score.

PubMed Disclaimer

Conflict of interest statement

MWL, SD, and LAF have no conflict to disclose. This publication does not represent the views of the Department of Veteran Affairs or the United States Government.

Figures

Figure 1
Figure 1
Discovery cohort sample sizes for AD cases in the largest European ancestry and African American AD GWAS by year. The number of cases in the AD case-control cohort GWAS is indicated in blue, and the number of proxy cases (i.e., AD status in the parents) is indicated in green. Although the sample size is much smaller for African American compared to European ancestry GWAS, the size of African American GWAS surged after the publication of a recent study [69].
Figure 2
Figure 2
Linkage disequilibrium (LD) among TREM2 variants associated with AD risk in African American cohorts and the R47H variant associated with AD in European ancestry cohorts [35,69,75]. LD presented for both African-ancestry (AFR) and European ancestry (EUR) populations from the 1000 Genomes reference panel. NA indicates that LD was not estimated because one or both variants were too rare or absent in that population. Values on the diagonals which are necessarily 1.0 are shaded in black.
Figure 3
Figure 3
Linkage disequilibrium (LD) of ABCA7 variants associated with AD risk in African American cohorts and the peak AD SNP (rs12151021) associated with AD in European ancestry cohorts [33,67,69,74,76,77]. LD presented for both African-ancestry (AFR) and European ancestry (EUR) populations from the 1000 Genomes reference panel. NA indicates that LD was not estimated because one or both of the variants were too rare or absent in that population. Values on the diagonals which are necessarily 1.0 are shaded in black.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

  • No Replication of Alzheimer's Disease Genetics as a Moderator of Combat Exposure's Association with PTSD risk in 138,592 Combat Veterans.
    Wolf EJ, Miller MW, Zhang R, Sherva R, Harrington KM, Fonda JR, Daskalakis NP, Gaziano JM, Logue MW. Wolf EJ, et al. Nat Ment Health. 2024 Apr 4;2:553-561. doi: 10.1038/s44220-024-00225-1. Nat Ment Health. 2024. PMID: 39247144 Free PMC article.
  • Genetic and environmental risk factors for dementia in African adults: A systematic review.
    Donkor DM, Marfo E, Bockarie A, Tettevi EJ, Antwi MH, Dogah J, Osei GN, Simpong DL. Donkor DM, et al. Alzheimers Dement. 2025 Apr;21(4):e70220. doi: 10.1002/alz.70220. Alzheimers Dement. 2025. PMID: 40289851 Free PMC article.
  • Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations.
    Nicolas A, Sherva R, Grenier-Boley B, Kim Y, Kikuchi M, Timsina J, de Rojas I, Dalmasso MC, Zhou X, Le Guen Y, Arboleda-Bustos CE, Camargos Bicalho MA, Guerchet M, van der Lee S, Goss M, Castillo A, Bellenguez C, Küçükali F, Satizabal CL, Fongang B, Yang Q, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Cao H, Ip NY, Fu AKY, Ip FCF, Olivar N, Muchnik C, Cuesta C, Campanelli L, Solis P, Politis DG, Kochen S, Brusco LI, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, Heikkinen S, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Rasmussen KL, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten JC, Seelaar H, Claassen JAHR, Jansen WJ, Ramakers I, Verhey F, van der Lugt A, Scheltens P, Ortega-Rojas J, Concha Mera AG, Mahecha MF, Pardo R, Arboleda G, Bahrami S, Fominykh V, Selbæk G, Graff C, Papenberg G, Giedraitis V, Boland A, Deleuze JF, de Marco LA, de … See abstract for full author list ➔ Nicolas A, et al. Nat Genet. 2025 Jul;57(7):1598-1610. doi: 10.1038/s41588-025-02227-w. Epub 2025 Jun 18. Nat Genet. 2025. PMID: 40533518 Free PMC article.
  • Evaluating the association of APOE genotype and cognitive resilience in SuperAgers.
    Durant A, Mukherjee S, Lee ML, Choi SE, Scollard P, Klinedinst BS, Trittschuh EH, Mez J, Farrer LA, Gifford KA, Cruchaga C, Hassenstab J, Naj AC, Wang LS, Johnson SC, Engelman CD, Kukull WA, Keene CD, Saykin AJ, Cuccaro ML, Kunkle BW, Pericak-Vance MA, Martin ER, Bennett DA, Barnes LL, Schneider JA, Bush WS, Haines JL, Mayeux R, Vardarajan BN, Albert MS, Thompson PM, Jefferson AL; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer’s Disease Genetics Consortium (ADGC); Alzheimer’s Disease Sequencing Project (ADSP); Crane PK, Dumitrescu L, Archer DB, Hohman TJ, Gaynor LS. Durant A, et al. medRxiv [Preprint]. 2025 Jun 25:2025.01.07.25320117. doi: 10.1101/2025.01.07.25320117. medRxiv. 2025. PMID: 39830268 Free PMC article. Preprint.
  • Subjective cognitive concerns, APOE ε4, PTSD symptoms, and risk for dementia among older veterans.
    Neale ZE, Fonda JR, Miller MW, Wolf EJ, Zhang R, Sherva R, Harrington KM, Merritt V, Panizzon MS, Hauger RL, Gaziano JM; VA Million Veteran Program; Logue MW. Neale ZE, et al. Alzheimers Res Ther. 2024 Jun 29;16(1):143. doi: 10.1186/s13195-024-01512-w. Alzheimers Res Ther. 2024. PMID: 38951900 Free PMC article.
See all "Cited by" articles

References

    1. Alzheimer’s Association 2023 Alzheimer’s disease facts and figures. Alzheimers Dement. 2023;19:1598–1695. doi: 10.1002/alz.13016. - DOI - PubMed
    1. Sharp E.S., Gatz M. Relationship between education and dementia: An updated systematic review. Alzheimer Dis. Assoc. Disord. 2011;25:289–304. doi: 10.1097/WAD.0b013e318211c83c. - DOI - PMC - PubMed
    1. Evans I.E.M., Martyr A., Collins R., Brayne C., Clare L. Social isolation and cognitive function in later life: A systematic review and meta-analysis. J. Alzheimers Dis. 2019;70:S119–S144. doi: 10.3233/JAD-180501. - DOI - PMC - PubMed
    1. Tang M.X., Cross P., Andrews H., Jacobs D.M., Small S., Bell K., Merchant C., Lantigua R., Costa R., Stern Y., et al. Incidence of AD in African-Americans, Caribbean Hispanics, and Caucasians in northern Manhattan. Neurology. 2001;56:49–56. doi: 10.1212/WNL.56.1.49. - DOI - PubMed
    1. Demirovic J., Prineas R., Loewenstein D., Bean J., Duara R., Sevush S., Szapocznik J. Prevalence of dementia in three ethnic groups: The South Florida program on aging and health. Ann. Epidemiol. 2003;13:472–478. doi: 10.1016/S1047-2797(02)00437-4. - DOI - PubMed

LinkOut - more resources