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Basic Science and Pathogenesis
Larry D Adams1, Jose J Sanchez1, Vanessa C Rodriguez1
1John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association
|December 24, 2025
Summary
Genetic studies in Cuban Americans replicated Alzheimer disease (AD) risk loci, including APOE4, SPI1, and ADAMTS1. These findings advance understanding of AD genetic architecture across diverse populations.
Area of Science:
- Genetics
- Neuroscience
- Population Health
Background:
- Alzheimer disease (AD) genetic studies have identified over 80 loci, with APOE being a major risk factor.
- Understanding genetic variations across ancestries is crucial for effective AD research and interventions.
- Cuban Americans possess mixed European, African, and Amerindian ancestries, offering a unique population for genetic studies.
Purpose of the Study:
- To investigate the association of established Alzheimer disease (AD) risk loci within the Cuban American population.
- To determine if genetic risk factors for AD are consistent across different ancestral backgrounds.
- To enhance the understanding of the genetic architecture of Alzheimer disease (AD) in diverse populations.
Main Methods:
- Utilized data from the Cuban American Alzheimer's Disease Initiative (CuADI) cohort, including 239 individuals.
- Employed a mixed-model regression approach (SAIGE) for association analysis.
- Controlled for age, gender, population substructure (principal components), and relatedness in the analysis.
Main Results:
- Replicated SORL1, CR1, ADAM17, and RASGEF1C as risk loci for Alzheimer disease (AD) in Cuban Americans.
- Identified SPI1 and ADAMTS1 as protective loci for AD in this population.
- Confirmed APOE4 as a significant risk factor for AD (OR=2.94, p=1.37×10-4), with an effect size comparable to European populations.
Conclusions:
- Replicated associations of SORL1, CR1, ADAM17, RASGEF1C, SPI1, and ADAMTS1 with AD risk and protection in Cuban Americans.
- The significant effect of APOE4 in Cuban Americans aligns with its known role in AD pathogenesis across diverse ancestries.
- Findings contribute to a broader understanding of AD's genetic underpinnings and support targeted research and interventions.
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