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:

MA van Es, JH Veldink, CG Saris, HM Blauw, PW van Vught, A Birve, R Lemmens, HJ Schelhaas, EJ Groen, MH Huisman, AJ van der Kooi, M de Visser, C Dahlberg, K Estrada, F Rivadeneira, A Hofman, MJ Zwarts, PT van Doormaal, D Rujescu, E Strengman, I Giegling, P Muglia, B Tomik, A Slowik, AG Uitterlinden, C Hendrich, S Waibel, T Meyer, AC Ludolph, JD Glass, S Purcell, S Cichon, MM Nöthen, HE Wichmann, S Schreiber, SH Vermeulen, LA Kiemeney, JH Wokke, S Cronin, RL McLaughlin, O Hardiman, K Fumoto, RJ Pasterkamp, V Meininger, J Melki, PN Leigh, CE Shaw, JE Landers, A Al-Chalabi, RH Brown, W Robberecht, PM Andersen, RA Ophoff, LH van den Berg

TITLE:

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

JOURNAL:

Nature genetics Oct 2009, Vol 41, pp. 1083-7

ABSTRACT:

We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees. PUBMED: 19734901
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