DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Alzheimer's disease biomarkers. The EFO term Alzheimers disease, t-tau measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: Alzheimers disease, t-tau measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

C Cruchaga, JS Kauwe, O Harari, SC Jin, Y Cai, CM Karch, BA Benitez, AT Jeng, T Skorupa, D Carrell, S Bertelsen, M Bailey, D McKean, JM Shulman, PL De Jager, L Chibnik, DA Bennett, SE Arnold, D Harold, R Sims, A Gerrish, J Williams, VM Van Deerlin, VM Lee, LM Shaw, JQ Trojanowski, JL Haines, R Mayeux, MA Pericak-Vance, LA Farrer, GD Schellenberg, ER Peskind, D Galasko, AM Fagan, DM Holtzman, JC Morris, AM Goate

TITLE:

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

JOURNAL:

Neuron Apr 2013, Vol 78, pp. 256-68

ABSTRACT:

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. PUBMED: 23562540
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