Journal Article

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

Hernandez, Dena G, Lombardo, Federica, Matarin, Mar, Arepalli, Sampath, Singleton, Andrew, Bruijn, Lucie, Restagno, Gabriella, Chiò, Adriano, Crews, Cynthia, Traynor, Bryan J, Schymick, Jennifer C, Hardy, John, Kasperaviciute, Dalia, Rothstein, Jeffrey, Scholz, Sonja W, Britton, Angela, Gibbs, J Raphael, Mora, Gabriele, Fung, Hon-Chung

2007

Overview

The cause of sporadic ALS is currently unknown. Despite evidence for a role for genetics, no common genetic variants have been unequivocally linked to sporadic ALS. We sought to identify genetic variants associated with an increased or decreased risk for developing ALS in a cohort of American sporadic cases. We undertook a genome-wide association study using publicly available samples from 276 patients with sporadic ALS and 271 neurologically normal controls. 555 352 unique SNPs were assayed in each sample using the Illumina Infinium II HumanHap550 SNP chip. More than 300 million genotypes were produced in 547 participants. These raw genotype data are freely available on the internet and represent the first publicly accessible SNP data for ALS cases. 34 SNPs with a p value less than 0·0001 (two degrees of freedom) were found, although none of these reached significance after Bonferroni correction. We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified.

• Publisher: Elsevier Ltd,Elsevier Limited
• Subject: Adult / Aged / Aged, 80 and over / Alzheimer's disease / Amyotrophic lateral sclerosis / Amyotrophic Lateral Sclerosis - genetics / Aneurysms / Ataxia / Autism / Databases, Genetic - standards / Databases, Genetic - trends / Dementia / Disease / DNA Mutational Analysis - methods / Dystonia / Epstein-Barr virus / Family medical history / Female / Genes / Genetic Markers - genetics / Genetic Predisposition to Disease - genetics / Genetic Testing - methods / Genomes / Genomic Library / Genotype / Genotype & phenotype / Haplotypes / Humans / Male / Middle Aged / Molecular Biology - methods / Molecular Biology - trends / Mutation - genetics / Neurodegeneration / Neurology / Parkinson's disease / Polymorphism, Single Nucleotide - genetics / Public Sector - standards / Reference Values