作者
Carlos Cruchaga, John SK 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
发表日期
2013/4/24
期刊
Neuron
卷号
78
期号
2
页码范围
256-268
出版商
Elsevier
简介
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 …
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C Cruchaga, JSK Kauwe, O Harari, SC Jin, Y Cai… - Neuron, 2013