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The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer’s disease risk
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Abstract
Common variants in the microglia-specific MS4A gene cluster modify risk for late-onset Alzheimer’s disease and modulate extracellular soluble TREM2.
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“TREM2 function is regulated via interactions and crosstalk with other receptors, including the AD risk hits CD33, and the Ms4A gene-cluster products [23, 59].”
From TREM2/PLCγ2 signalling in immune cells: function, structural insight, and potential therapeutic modulation (2021) · cites this paper as [59]
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“As Ms4a genes can regulate the level of soluble TREM2 and modify AD risk39, we used immunoblot analysis to rule out the possibility that myelin dysfunction affects TREM2 protein levels or cleavage through increased Ms4a expression (Extended Data Fig. 9a).”
From Myelin dysfunction drives amyloid-β deposition in models of Alzheimer’s disease (2023) · cites this paper as [39]
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“Targeting CSF proteins has proven successful at elucidating causal genes at some disease GWAS loci, including an association for the TREM2 protein at the MS4A locus potentially an Alzheimer’s Disease (AD) risk locus7,20 and an association for GRN protein levels near LRRK2 potentially relevant for Parkinson’s Disease (PD)21.”
From Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease (2024) · cites this paper as [7]
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“supporting a strong immunological role in AD93–95 including TREM27,96, CD33, and IL34.”
From Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease (2024) · cites this paper as [7]
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In the citing paper
“MS4A6A, a gene related to AD risk22,68,69, was one of the genes that showed a region-specific effect of age68,70.”
From Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies (2022) · cites this paper as [69]
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“Common variants in the MS4A gene cluster were shown to significantly regulate sTREM2 levels in CSF [134], demonstrating regulation of this endophenotype is orchestrated by genetic variants that also modify risk for disease.”
From Genetic architecture of Alzheimer's disease (2020) · cites this paper as [134]
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“…cluster have recently been shown to have a crucial role in modulating the level of soluble TREM2 found in humanderived CSF, both from AD and healthy individuals (Deming et al., 2019), prompting the development also of a MS4A4A-based approach (Figure 1b), which is heading towards clinical trial.”
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Self-citationA Microglia Initiated Target Therapy in Neuroinflammation for Alzheimer’s Patients
Faiza, B. K., Abedi, A., Andrea, O. B. O., Tamar, G., & Chermahini, S. H. (2024) · Journal of Alzheimers Research and Therapy · doi:10.14302/issn.2998-4211.jalr-24-4926
Bazgir, N., Baghani, M., Khanahmadi, M., Sami, N., Niknazar, S., & Rahimzadegan, M. (2026) · Current Genetic Medicine Reports · doi:10.1007/s40142-026-00240-x
“Collectively, these multifaceted genetic, molecu - lar, and cellular findings strongly suggest that MS4A4A plays a pivotal role in modulating sTREM2 [33].”
InfluentialZhao, Y., Conghui, L., Yv, K., Wang, N., & Li, Z. (2026) · Journal of Alzheimer s Disease · doi:10.1177/13872877261452242 · Cited by 1
“58 Our results support the notion that genetic regulation of MS4A4A expression contributes to microglial functional states relevant to AD risk.”
Self-citationPapageorgopoulou, M., Adair, E., Fancy, N. N., Avot, B., Boulger, S. L., Wülfing, M. S., & Matthews, P. M. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.18.733103
Wang, H., Wen, R., Parker, E., & Yang, L. (2026) · Cell Communication and Signaling · doi:10.1186/s12964-026-03083-9 · Cited by 2
“Additionally, sTREM2 levels are positively regulated by MS4A4A [110], while the effects of DAP12, ADAM10, or ADAM17 on CSF sTREM2 remain unclear.”
CSF proteomic quantitative trait loci mapping reveals genetic insights into Alzheimer’s disease
Reus, L. M., Jiang, C., Vilor‐Tejedor, N., Boltz, T. A., Yigit, A., Gobom, J., Vos, S. J. B., Blennow, K., Zetterberg, H., Martinez-Lage, P., et al. (2026) · Molecular Neurodegeneration Advances · doi:10.1186/s44477-026-00048-7
“One example is the genetic AD risk region MS4A, which is related to altered CSF sTREM2 concentrations [19].”
Self-citationJahanbin, K., & Initiative, A. D. N. (2026) · FASEB BioAdvances · doi:10.1096/fba.2026-00194
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Metadata
- Authors
- Deming, Y., Filipello, F., Cignarella, F., Cantoni, C., Hsu, S., Mikesell, R., Li, Z., Del-Aguila, J. L., Dube, U., Farias, F. G., Bradley, J., Budde, J., Ibanez, L., Fernandez, M. V., Blennow, K., Zetterberg, H., Heslegrave, A., Johansson, P. M., Svensson, J., Nellgård, B., Lleo, A., Alcolea, D., Clarimon, J., Rami, L., Molinuevo, J. L., Suárez-Calvet, M., Morenas-Rodríguez, E., Kleinberger, G., Ewers, M., Harari, O., Haass, C., Brett, T. J., Benitez, B. A., Karch, C. M., Piccio, L., & Cruchaga, C.
- Affiliations
- University of Wisconsin–Madison (US)
- Washington University in St. Louis (US)
- Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.
- Lund University (SE)
- Sahlgrenska University Hospital (SE)
- Universitat Autònoma de Barcelona (ES)
- Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
- Pasqual Maragall Foundation (ES)
- Munich Cluster for Systems Neurology (DE)
- IDIBAPS, Alzheimer’s Disease and Other Cognitive Disorders Unit, Neurology Service, ICN Hospital Clinic, Barcelona, Spain.
- Barcelonaβeta Brain Research Center, Pasqual Maragall Foundation, Barcelona, Spain.
- Biomedical Center (BMC), Biochemistry, Ludwig-Maximilians-Universität München, Munich, Germany.
- German Center for Neurodegenerative Diseases (DE)
- Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO 63110, USA.
- Corresponding author
- Deming, Yuetiva
- Filipello, Fabia
- Cignarella, Francesca
- Harari, Oscar
- Haass, Christian
- Karch, Celeste M.
- ORCID
- Deming, Yuetiva
- Filipello, Fabia
- Cignarella, Francesca
- Cantoni, Claudia
- Hsu, Simon
- Mikesell, Robert
- Li, Zeran
- Del-Aguila, Jorge L
- Dube, Umber
- Farias, Fabiana Geraldo
- Bradley, Joseph
- Budde, John
- Ibanez, Laura
- Fernandez, Maria Victoria
- Blennow, Kaj
- Zetterberg, Henrik
- Heslegrave, Amanda
- Johansson, Per M
- Svensson, Johan
- Nellgård, Bengt
- Alcolea, Daniel
- Clarimon, Jordi
- Rami, Lorena
- Suárez-Calvet, Marc
- Kleinberger, Gernot
- Ewers, Michael
- Harari, Oscar
- Haass, Christian
- Benitez, Bruno A.
- Karch, Celeste M.
- Piccio, Laura
- Cruchaga, Carlos
- Venue
- Science Translational Medicine
- Published
- 2019-08-14
- Volume
- 11
- Issue
- 505
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC6697053
- OpenAlex
- W2968181515
- Cited by
- 271
- References
- 90
- Citations by year
- 2026: 21 · 2025: 37 · 2024: 46 · 2023: 43 · 2022: 48 · 2021: 40 · 2020: 21 · 2019: 15
- FWCI
- 13.58
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Locations
- Science Translational Medicine (publishedVersion)
- bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Open access LMU (Ludwid Maxmilian's Universitat Munchen) (submittedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- DZNE Pub (submittedVersion)
- Funders
- National Institutes of Health (R01AG044546, P01AG003991, RF1AG053303, R01AG058501, R01AG035083)
- Topics
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Keywords
- soluble TREM2, Alzheimer's disease risk, late-onset Alzheimer's disease, microglia, common genetic variants, genetic risk factors
- MeSH terms
- Alzheimer Disease, Female, Multigene Family, Humans, Macrophages, Male, Membrane Glycoproteins, Membrane Proteins, Receptors, Immunologic, Meta-Analysis as Topic, Genome-Wide Association Study
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