Molecular mechanisms of the genetic risk factors in pathogenesis of Alzheimer disease
Abstract
Alzheimer disease (AD) is a neurodegenerative disease characterized by the extensive deposition of senile plaques and neurofibrillary tangles. Until recently, only the APOE gene had been known as a genetic risk factor for late-onset AD (LOAD), which accounts for more than 95% of all AD cases. However, in addition to this well-established genetic risk factor, genome-wide association studies have identified several single nucleotide polymorphisms as genetic risk factors of LOAD, such as PICALM and BIN1. In addition, whole genome sequencing and exome sequencing have identified rare variants associated with LOAD, including TREM2. We review the recent findings related to the molecular mechanisms by which these genetic risk factors contribute to AD, and our perspectives regarding the etiology of AD for the development of therapeutic agents.
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APOE gene has been closely related to the incidence of Alzheimer's disease in most cases.
“APOE gene has been closely related to the incidence of AD in most cases [27].”
From Recent Advancements in Pathogenesis, Diagnostics and Treatment of Alzheimer’s Disease (2020) · cites this paper as [27]
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“APOE gene has been closely related to the incidence of AD in most cases [27].”
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- Authors
- Tomita, T.
- Affiliations
- The University of Tokyo (JP)
- Corresponding author
- Tomita, Taisuke
- ORCID
- Tomita, Taisuke
- Venue
- Frontiers in Bioscience
- Publisher
- IMR Press
- Published
- 2017
- Volume
- 22
- Issue
- 1
- Pages
- 180-192
- ISSN
- 1093-4715 (ISSN-L)
- 1093-9946
- DOI
- 10.2741/4480
- OpenAlex
- W2548785077
- Cited by
- 48
- References
- 0
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 1 · 2023: 30 · 2022: 1 · 2021: 2 · 2020: 3 · 2019: 2 · 2018: 1 · 2017: 4
- FWCI
- 1.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Frontiers in bioscience (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Keywords
- Alzheimer's disease, late-onset Alzheimer's disease, genetic risk factors, apolipoprotein E, single nucleotide polymorphisms, PICALM, BIN1, TREM2, rare variants, amyloid plaques, neurofibrillary tangles, pathogenesis, therapeutic target
- MeSH terms
- Alzheimer Disease, Humans, Membrane Glycoproteins, Mutation, Receptors, Immunologic, Risk Factors, Amyloid beta-Peptides, Genetic Predisposition to Disease, Membrane Transport Proteins, Lipid Metabolism, Apolipoprotein E4, Genome-Wide Association Study
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