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Cited by 111Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatmentsPhagocytosis and Immune Regulation

Microglial efferocytosis: Diving into the Alzheimer’s disease gene pool

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Romero-Molina, Carmen, Garretti, Francesca, Andrews, Shea J., Marcora, Edoardo, Goate, Alison M.·2022·Neuron
DOI 10.1016/j.neuron.2022.10.015PMC PMC13175419
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Abstract

Genome-wide association studies and functional genomics studies have linked specific cell types, genes, and pathways to Alzheimer's disease (AD) risk. In particular, AD risk alleles primarily affect the abundance or structure, and thus the activity, of genes expressed in macrophages, strongly implicating microglia (the brain-resident macrophages) in the etiology of AD. These genes converge on pathways (endocytosis/phagocytosis, cholesterol metabolism, and immune response) with critical roles in core macrophage functions such as efferocytosis. Here, we review these pathways, highlighting relevant genes identified in the latest AD genetics and genomics studies, and describe how they may contribute to AD pathogenesis. Investigating the functional impact of AD-associated variants and genes in microglia is essential for elucidating disease risk mechanisms and developing effective therapeutic approaches.

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Cited by

Sorted by citations

Authors
Romero-Molina, C., Garretti, F., Andrews, S. J., Marcora, E., & Goate, A. M.
Affiliations
  • Icahn School of Medicine at Mount Sinai (US)
  • University of California, San Francisco (US)
Corresponding author
  • Marcora, Edoardo
  • Goate, Alison M.
ORCID
Venue
Neuron
Publisher
Elsevier BV
Published
2022-11
Volume
110
Issue
21
Pages
3513-3533
ISSN
0896-6273 (ISSN-L)
DOI
10.1016/j.neuron.2022.10.015
PMC
PMC13175419
OpenAlex
W4308149935
Cited by
111
References
225
Citations by year
2026: 28 · 2025: 37 · 2024: 18 · 2023: 25 · 2022: 3
FWCI
2.16
Type
journal article
Language
en
Open access
Licence
Locations
  • Neuron (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (publishedVersion)
Funders
  • Icahn School of Medicine at Mount Sinai
  • Fundación Alfonso Martín Escudero
Topics
  • Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Life Sciences › Immunology and Microbiology › Immunology › Phagocytosis and Immune Regulation
Keywords
microglia, efferocytosis, Alzheimer's disease, macrophages, phagocytosis, endocytosis, cholesterol metabolism, immune response, microglial gene expression
MeSH terms
Alzheimer Disease, Gene Pool, Humans, Phagocytosis, Microglia, Genome-Wide Association Study

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