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Updated: May 28, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
Genetic studies in Alzheimer's disease
Ya-Ping Tang1, Elliot S Gershon
1Department of Psychiatry, The University of Chicago, 5841 S Maryland Avenue, Chicago, III, USA.
Genetic factors significantly contribute to Alzheimer's disease (AD) risk. Identifying causative and susceptibility genes is crucial for understanding AD pathogenesis and developing future treatments.
Area of Science:
- Neuroscience
- Genetics
- Gerontology
Background:
- Alzheimer's disease (AD) is the leading cause of dementia in older adults.
- AD pathogenesis is influenced by a combination of environmental factors and genetic variations.
- Genetic associations currently explain approximately 50% of the population risk for AD.
Purpose of the Study:
- To review the current understanding of genetic factors implicated in Alzheimer's disease.
- To highlight identified causative genes and major genetic risk factors for AD.
- To emphasize the ongoing search for novel genetic associations in AD.
Main Methods:
- Review of extensive linkage and association studies.
- Identification and categorization of known causative genes (APP, PS1, PS2) and risk factors (APOE).
- Analysis of genetic variations including mutations and polymorphisms.
Main Results:
- APP, PS1, and PS2 genes are causative for early-onset AD.
- APOE is the primary genetic risk factor for late-onset AD.
- Other gene loci show weaker or unreproducible associations with AD.
Conclusions:
- Genetic factors play a substantial role in Alzheimer's disease development.
- Further research is expected to uncover additional causative genes and genetic risk factors.
- Understanding genetic contributions is vital for advancing AD treatment and cure efforts.
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