Genetic risk in Alzheimer’s disease

Alzheimer's disease (AD) has a strong genetic predisposition. Genome-wide association studies have identified multiple risk loci, yet many non-coding variants remain uncharacterized. Machine learning-based polygenic risk scores (PRS) enhance prediction by modeling genetic epistasis and sex-specific risks. This review summarizes AD genetic risk factors, PRS methodologies, and ML-based AD risk prediction. It also highlights challenges such as population bias, functional validation, and integrating multi-omics for precision medicine.

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Publication Details

Journal
npj Systems Biology and Applications
Published
2026-02-14
DOI
https://doi.org/10.1038/s41540-026-00665-8
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
0.00

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article

Genetic risk in Alzheimer’s disease

Hwayoung Cho, Qianqian Song, Breton M. Asken, Qian Lou et al.
npj Systems Biology and Applications
Genetic Associations and Epidemiology
article

Genetic risk in Alzheimer’s disease

Hwayoung Cho, Qianqian Song, Breton M. Asken, Qian Lou, Wei Zhang, Yining Pan
article en

Abstract

Alzheimer's disease (AD) has a strong genetic predisposition. Genome-wide association studies have identified multiple risk loci, yet many non-coding variants remain uncharacterized. Machine learning-based polygenic risk scores (PRS) enhance prediction by modeling genetic epistasis and sex-specific risks. This review summarizes AD genetic risk factors, PRS methodologies, and ML-based AD risk prediction. It also highlights challenges such as population bias, functional validation, and integrating multi-omics for precision medicine.

npj Systems Biology and ApplicationsVol. 12(1)
University of Central Florida (US), University of Florida Health (US), University of Florida (US)
National Institutes of Health, National Institute of General Medical Sciences
Openalex Percentile: Top 53%
Genetic Associations and Epidemiology
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