Cited by 311Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchNeuroinflammation and Neurodegeneration Mechanisms

Genes associated with Alzheimer's disease: an overview and current status

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Giri, Mohan, Lü, Yang, Zhang, Man·2016·Clinical Interventions in Aging

Abstract

Alzheimer's disease (AD) is a progressive, neurodegenerative disease and the most common form of dementia in elderly people. It is an emerging public health problem that poses a huge societal burden. Linkage analysis was the first milestone in unraveling the mutations in APP, PSEN1, and PSEN2 that cause early-onset AD, followed by the discovery of apolipoprotein E-ε4 allele as the only one genetic risk factor for late-onset AD. Genome-wide association studies have revolutionized genetic research and have identified over 20 genetic loci associated with late-onset AD. Recently, next-generation sequencing technologies have enabled the identification of rare disease variants, including unmasking small mutations with intermediate risk of AD in PLD3, TREM2, UNC5C, AKAP9, and ADAM10. This review provides an overview of the genetic basis of AD and the relationship between these risk genes and the neuropathologic features of AD. An understanding of genetic mechanisms underlying AD pathogenesis and the potentially implicated pathways will lead to the development of novel treatment for this devastating disease.

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  1. [113]Rajagopalan P Hibar DP Thompson PM TREM2 and neurodegenerative disease N Engl J Med 2013 369 16 1565 1567 24131186 PMC4024453

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Authors
Giri, M., Lü, Y., & Zhang, M.
Affiliations
The Affiliated Yongchuan Hospital of Chongqing Medical University (CN)
Venue
Clinical Interventions in Aging
Published
2016-05
Volume
11
Pages
665
ISSN
  • 1176-9092 (ISSN-L)
  • 1178-1998
OpenAlex
W2405825843
Cited by
311
References
201
Citations by year
2026: 10 · 2025: 24 · 2024: 33 · 2023: 33 · 2022: 41 · 2021: 36 · 2020: 41 · 2019: 35 · 2018: 29 · 2017: 21 · 2016: 7 · 2015: 1
FWCI
3.60
Type
journal article
Language
en
Open access
Locations
  • Clinical Interventions in Aging (publishedVersion, cc-by-nc)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
  • PubMed Central (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • Dove Medical Press (Taylor and Francis Group) (submittedVersion, cc-by-nc)
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, genetic risk factors, APP, presenilin 1, presenilin 2, APOE ε4, late-onset Alzheimer's disease, early-onset Alzheimer's disease, genome-wide association study, rare variants, PLD3, TREM2, UNC5C, AKAP9, ADAM10, neuropathology, pathogenesis
MeSH terms
Alzheimer Disease, Humans, Mutation, Risk Factors, Amyloid beta-Protein Precursor, Genetic Predisposition to Disease, Apolipoprotein E4, Presenilin-1, Presenilin-2, Genome-Wide Association Study

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