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

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

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Abstract

Background: 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. Methods: 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. Findings: 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. Interpretation: 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.

Original languageEnglish (US)
Pages (from-to)322-328
Number of pages7
JournalThe Lancet Neurology
Volume6
Issue number4
DOIs
StatePublished - Apr 2007

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ASJC Scopus subject areas

  • Clinical Neurology

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Schymick, J. C., Scholz, S. W., Fung, H. C., Britton, A., Arepalli, S., Gibbs, J. R., Lombardo, F., Matarin, M., Kasperaviciute, D., Hernandez, D. G., Crews, C., Bruijn, L., Rothstein, J. D., Mora, G., Restagno, G., Chiò, A., Singleton, A., Hardy, J., & Traynor, B. J. (2007). Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. The Lancet Neurology, 6(4), 322-328. https://doi.org/10.1016/S1474-4422(07)70037-6