Mega-GWAS ALS I

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.

• Study Weblinks:
  • NINDS Amyotrophic Lateral Sclerosis
• Study Design:
  • Case-Control
• Study Type:
  • Case-Control
• dbGaP estimated ancestry using GRAF-pop
• Total number of consented subjects: 15480
• Subject Sample Telemetry Report (SSTR)

• BioProject
• Sequence Read Archive
• BioSample
• MeSH

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.

• 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.

• Primary Phenotype: Amyotrophic Lateral Sclerosis

• 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.