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Basic Science and Pathogenesis.

Olatokun Shamsudeen Akano1,2, Halleluyah Darasimi Oludele2, Chukwuebuka Stanley Asogwa3,4,5

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Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
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Summary
This summary is machine-generated.

Alzheimer's disease (AD) genetics in African populations show unique patterns and risk factors distinct from European populations. Increased representation in genomic research is crucial for understanding AD in Africa and developing targeted interventions.

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Area of Science:

  • Neuroscience
  • Genetics
  • Population Health

Background:

  • The aging population in low- and middle-income countries is increasing, leading to a rise in dementia, especially Alzheimer's disease (AD).
  • African populations face a higher risk of AD due to genetic factors but are underrepresented in genomic research.
  • This underrepresentation hinders the identification of African-specific genetic variants and effective therapeutic strategies.

Purpose of the Study:

  • To review and analyze existing genetic studies on Alzheimer's disease in African populations.
  • To identify unique genetic risk factors and patterns of AD in Africa.
  • To highlight the disparity in genomic research representation between African and European populations.

Main Methods:

  • A systematic literature search was conducted on PubMed for genetic studies on Alzheimer's disease in Africa.
  • 28 relevant peer-reviewed studies investigating Alzheimer's susceptibility genes in African and European populations were selected.
  • Studies were included if they focused on genetic factors of AD in African and European populations; editorials, commentaries, and irrelevant studies were excluded.

Main Results:

  • Distinct genetic patterns for Alzheimer's disease (AD) were observed in African populations, including population-specific mutations (e.g., PSEN1 R35Q, V191A) and the crucial risk factor ABCA7.
  • While traditional AD genes (APP, PSEN1, PSEN2) show varied presentations, genes like PON1, TREM2, and SLC24A4 present unique genetic signatures in African populations.
  • African genetic studies are underrepresented (36%) compared to European studies (50%), with notable differences in the impact of genes like BIN1 and TREM2.

Conclusions:

  • Significant genetic variations and correlations exist between Alzheimer's disease genes in African and European populations.
  • The underrepresentation of large-scale genomic studies in African populations necessitates urgent, more representative research.
  • Expanded research is vital for developing tailored interventions for AD prevention and treatment in African communities.