作者
Yuetiva Deming, Fabia Filipello, Francesca Cignarella, Claudia Cantoni, Simon Hsu, Robert Mikesell, Zeran Li, Jorge L Del-Aguila, Umber Dube, Fabiana Geraldo Farias, Joseph Bradley, John Budde, Laura Ibanez, Maria Victoria Fernandez, Kaj Blennow, Henrik Zetterberg, Amanda Heslegrave, Per M Johansson, Johan Svensson, Bengt Nellgård, Alberto Lleo, Daniel Alcolea, Jordi Clarimon, Lorena Rami, José Luis Molinuevo, Marc Suárez-Calvet, Estrella Morenas-Rodríguez, Gernot Kleinberger, Michael Ewers, Oscar Harari, Christian Haass, Thomas J Brett, Bruno A Benitez, Celeste M Karch, Laura Piccio, Carlos Cruchaga
发表日期
2019/8/14
期刊
Science translational medicine
卷号
11
期号
505
页码范围
eaau2291
出版商
American Association for the Advancement of Science
简介
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 (MS4A) gene region were associated with CSF sTREM2 concentrations (rs1582763; P = 1.15 × 10−15); this was replicated in independent datasets. The variants associated with increased CSF sTREM2 concentrations were associated with …
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Y Deming, F Filipello, F Cignarella, C Cantoni, S Hsu… - Science translational medicine, 2019