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GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

Cruchaga, Carlos, Kauwe, John S. K., Harari, Oscar, Jin, Sheng Chih, Cai, Yefei, Karch, Celeste M., Benitez, Bruno A., Jeng, Amanda T., Skorupa, Tara, Carrell, David, Bertelsen, Sarah, Bailey, Matthew, McKean, David, Shulman, Joshua M., De Jager, Philip L., Chibnik, Lori, Bennett, David A., Arnold, Steve E., Harold, Denise, Sims, Rebecca ORCID:, Gerrish, Amy, Williams, Julie ORCID:, Van Deerlin, Vivianna M., Lee, Virginia M.-Y., Shaw, Leslie M., Trojanowski, John Q., Haines, Jonathan L., Mayeux, Richard, Pericak-Vance, Margaret A., Farrer, Lindsay A., Schellenberg, Gerard D., Peskind, Elaine R., Galasko, Douglas, Fagan, Anne M., Holtzman, David M., Morris, John C. and Goate, Alison M. 2013. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron 78 (2) , pp. 256-268. 10.1016/j.neuron.2013.02.026

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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 = 3.22 × 10−9 for tau and ptau, respectively), located at 9p24.2 within GLIS3 and rs6922617 (p = 3.58 × 10−8 for CSF ptau) at 6p21.1 within the TREM gene cluster, a region recently reported to harbor rare variants that increase AD risk. In independent data sets, rs9877502 showed a strong association with risk for AD, tangle pathology, and global cognitive decline (p = 2.67 × 10−4, 0.039, 4.86 × 10−5, respectively) illustrating how this endophenotype-based approach can be used to identify new AD risk loci.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Systems Immunity Research Institute (SIURI)
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
Publisher: Elsevier
ISSN: 0896-6273
Last Modified: 28 Oct 2022 09:44

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