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Study Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder clinically characterized by rapidly progressive paralysis and death due to respiratory failure, typically within two to three years of symptom onset. The number of ALS cases across the globe will increase to nearly 400,000 in 2040, predominantly due to aging of the population. Unraveling the genetics underlying ALS provides insights into the cellular mechanism leading to motor neuron death and provides targets for therapeutic intervention.

We performed a genome-wide association study involving a meta-analysis of 20,806 ALS cases and 59,804 controls. The current study release makes available genotype data of the 15,480 subjects assayed in the Laboratory of Neurogenetics for this effort.

Authorized Access
Publicly Available Data (Public ftp)
Study Inclusion/Exclusion Criteria

Inclusion criteria

All cases had been diagnosed with ALS according to the El Escorial criteria by a neurologist specializing in ALS, had onset of symptoms after age 18 years, and were of non-Hispanic white race/ethnicity. Patients with familial ALS and patients with sporadic ALS were included in the analysis. The control samples were obtained from individuals who were neurologically normal and did not carry a diagnosis of ALS. The control cohort was matched to the case cohort for race and ethnicity, but not for age or sex.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina HumanHap300v1.1 317503 33879 Previous Study Version
Whole Genome Genotyping Illumina HumanHap250Sv1.0 241847 38544 Previous Study Version
Also referenced as HumanHap240Sv1.0
Whole Genome Genotyping Illumina HumanHap550v3.0 561466 51468 Previous Study Version
Whole Genome Genotyping Illumina HumanHap550v1.1 555352 38431 Previous Study Version
Whole Genome Genotyping Illumina Human610_Quadv1_B 601273 1048904 Previous Study Version
Targeted Region Genotyping Illumina iSelect Custom Panel 7100 N/A Previous Study Version
Whole Exome Sequencing Illumina TruSeq Exome Enrichment Kit N/A N/A Previous Study Version
Whole Exome Sequencing Illumina HiSeq 2000 N/A N/A Previous Study Version
Whole Exome Sequencing Agilent SureSelect N/A N/A Previous Study Version
Whole Exome Sequencing Roche NimbleGen SeqCap EZ Human Exome Library v1.0 N/A N/A Previous Study Version
Whole Exome Sequencing Roche NimbleGen SeqCap EZ Human Exome Library v2.0 N/A N/A Previous Study Version
Whole Genome Genotyping Illumina HumanOmniExpress-24 v1.0 N/A N/A Current Data
Whole Genome Genotyping Illumina HumanOmniExpress-24 v1.1 N/A N/A Current Data
Study History
  • June 2008 - Phenotype and analysis data were made available (genotype data are available through the Coriell Institute).
  • May 2010 - Phenotype and genotype data were made available.
  • April 2011 - Phenotype and genotype data of Italian study participants were made available.
  • March 2014 - Case cohort exome sequencing data were made available.
  • August 2018 - Phenotype and genotype/sequencing data of a total of n=15480 study participants now available.
  • All individual-level data are available through the dbGaP Authorized Access system by applying for study version 5 data.

Selected Publications
Diseases/Traits Related to Study (MeSH terms)
Links to Related Resources
Authorized Data Access Requests
Study Attribution
  • Principal Investigators
    • Bryan J. Traynor. National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
  • Funding Source
    • Intramural Research Program of the National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
  • Funding Sources
    • Z01-AG000933. National Institutes of Health, Bethesda, MD, USA.