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 Progressive supranuclear palsy. The EFO term Progressive supranuclear palsy 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: Progressive supranuclear palsy

SCORE TYPE:

P-Value

THRESHOLD:

<= 0.05

GENES IN THRESHOLD:

10

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-10-22

SPECIES:

AUTHORS:

GU Höglinger, NM Melhem, DW Dickson, PM Sleiman, LS Wang, L Klei, R Rademakers, R de Silva, I Litvan, DE Riley, JC van Swieten, P Heutink, ZK Wszolek, RJ Uitti, J Vandrovcova, HI Hurtig, RG Gross, W Maetzler, S Goldwurm, E Tolosa, B Borroni, P Pastor, LB Cantwell, MR Han, A Dillman, MP van der Brug, JR Gibbs, MR Cookson, DG Hernandez, AB Singleton, MJ Farrer, CE Yu, LI Golbe, T Revesz, J Hardy, AJ Lees, B Devlin, H Hakonarson, U Müller, GD Schellenberg

TITLE:

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

JOURNAL:

Nature genetics Jun 2011, Vol 43, pp. 699-705

ABSTRACT:

Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component. PUBMED: 21685912
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