The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk

Document Type

Article

Abstract

Soluble triggering receptor expressed on myeloid cells 2 (sTREM2) in cerebrospinal fluid (CSF) has been associated with Alzheimer's disease (AD). TREM2 plays a critical role in microglial activation, survival, and phagocytosis; however, the pathophysiological role of sTREM2 in AD is not well understood. Understanding the role of sTREM2 in AD may reveal new pathological mechanisms and lead to the identification of therapeutic targets. We performed a genome-wide association study (GWAS) to identify genetic modifiers of CSF sTREM2 obtained from the Alzheimer's Disease Neuroimaging Initiative. Common variants in the membrane-spanning 4-domains subfamily A (

Keywords

Alzheimer Disease, Female, Genome-Wide Association Study, Humans, Macrophages, Male, Membrane Glycoproteins, Membrane Proteins, Meta-Analysis as Topic, Multigene Family, Receptors, Immunologic

Medical Subject Headings

Alzheimer Disease; Female; Genome-Wide Association Study; Humans; Macrophages; Male; Membrane Glycoproteins; Membrane Proteins; Meta-Analysis as Topic; Multigene Family; Receptors, Immunologic

Publication Date

8-14-2019

Publication Title

Sci Transl Med

ISSN

1946-6242

Volume

11

Issue

505

PubMed ID

31413141

Digital Object Identifier (DOI)

10.1126/scitranslmed.aau2291

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