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 or frontotemporal dementia. The EFO term amyotrophic lateral sclerosis, Frontotemporal dementia 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, Frontotemporal dementia

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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