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Updated: May 1, 2026
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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
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Exome array study did not identify novel variants in Alzheimer's disease.
Sun Ju Chung1, Mi-Jung Kim2, Juyeon Kim1
1Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
Neurobiology of Aging
|April 2, 2014
Summary
This study investigated novel genetic variants for Alzheimer's disease (AD) risk using an exome array. While known variants like APOE were confirmed, no new genetic contributors to AD were identified.
Area of Science:
- Genetics
- Neurodegenerative Diseases
- Alzheimer's Disease Research
Background:
- Existing genetic variants explain limited inherited risk for Alzheimer's disease (AD).
- Identifying novel genetic factors is crucial for understanding AD pathogenesis.
Purpose of the Study:
- To identify novel genetic variants associated with Alzheimer's disease (AD) risk.
- Utilize a comprehensive exome array for broad genetic variant analysis.
Main Methods:
- Genotyped 295,988 variants in 1005 subjects (400 AD cases, 605 controls) using the Axiom Exome Genotyping Array.
- Performed logistic regression and sequence kernel association optimal tests.
- Analyzed variants from major human exome sequencing initiatives.
Main Results:
- Significant associations with AD were observed for variants in APOE, APOC1, and TOMM40.
- No novel genetic variants showed a significant association with AD in this study.
- The exome array approach did not uncover new AD-associated genetic variants.
Conclusions:
- The study confirmed known AD genetic risk factors (APOE, APOC1, TOMM40).
- This exome array-based investigation did not identify previously undiscovered genetic variants contributing to Alzheimer's disease.
- Further research is needed to elucidate the full genetic architecture of AD.
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