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 Amyotrophic lateral sclerosis. The EFO term amyotrophic lateral sclerosis 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: amyotrophic lateral sclerosis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

FP Diekstra, VM Van Deerlin, JC van Swieten, A Al-Chalabi, AC Ludolph, JH Weishaupt, O Hardiman, JE Landers, RH Brown, MA van Es, RJ Pasterkamp, M Koppers, PM Andersen, K Estrada, F Rivadeneira, A Hofman, AG Uitterlinden, P van Damme, J Melki, V Meininger, A Shatunov, CE Shaw, PN Leigh, PJ Shaw, KE Morrison, I Fogh, A Chiò, BJ Traynor, D Czell, M Weber, P Heutink, PI de Bakker, V Silani, W Robberecht, LH van den Berg, JH Veldink

TITLE:

C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

JOURNAL:

Annals of neurology Jul 2014, Vol 76, pp. 120-33

ABSTRACT:

Substantial clinical, pathological, and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 inclusions have been found in both ALS and FTD cases (FTD-TDP). Recently, a repeat expansion in C9orf72 was identified as the causal variant in a proportion of ALS and FTD cases. We sought to identify additional evidence for a common genetic basis for the spectrum of ALS-FTD. PUBMED: 24931836
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