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Trem tau

Joseph M Replogle, Gail Chan, Charles C White, Towfique Raj, Phoebe A Winn, Denis A Evans, Reisa A Sperling, Lori B Chibnik, Elizabeth M Bradshaw, Julie A Schneider, David A Bennett, Philip L De Jager
OBJECTIVE: Genome-wide association studies have linked variants in TREM2 (triggering receptor expressed on myeloid cells 2) and TREML2 with Alzheimer disease (AD) and AD endophenotypes. Here, we pursue a targeted analysis of the TREM locus in relation to cognitive decline and pathological features of AD. METHODS: Clinical, cognitive, and neuropathological phenotypes were collected in 3 prospective cohorts on aging (n = 3,421 subjects). Our primary analysis was an association with neuritic plaque pathology...
March 2015: Annals of Neurology
Carlos Cruchaga, John S K Kauwe, Oscar Harari, Sheng Chih Jin, Yefei Cai, Celeste M Karch, Bruno A Benitez, Amanda T Jeng, Tara Skorupa, David Carrell, Sarah Bertelsen, Matthew Bailey, David McKean, Joshua M Shulman, Philip L De Jager, Lori Chibnik, David A Bennett, Steve E Arnold, Denise Harold, Rebecca Sims, Amy Gerrish, Julie Williams, Vivianna M Van Deerlin, Virginia M-Y Lee, Leslie M Shaw, John Q Trojanowski, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Lindsay A Farrer, Gerard D Schellenberg, Elaine R Peskind, Douglas Galasko, Anne M Fagan, David M Holtzman, John C Morris, Alison M Goate
Cerebrospinal fluid (CSF) tau, tau phosphorylated at threonine 181 (ptau), and Aβ₄₂ are established biomarkers for Alzheimer's disease (AD) and have been used as quantitative traits for genetic analyses. We performed the largest genome-wide association study for cerebrospinal fluid (CSF) tau/ptau levels published to date (n = 1,269), identifying three genome-wide significant loci for CSF tau and ptau: rs9877502 (p = 4.89 × 10⁻⁹ for tau) located at 3q28 between GEMC1 and OSTN, rs514716 (p = 1.07 × 10⁻⁸ and p = 3...
April 24, 2013: Neuron
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