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NeuroX: a powerful genotyping platform for amyotrophic lateral sclerosis and other neurological disease

Friday, November 08, 2013 — Poster Session III

10:00 a.m. – 12:00 p.m.

FAES Academic Center (Upper-Level Terrace)




  • H.A. Pliner
  • A.E. Renton
  • M.A. Nalls
  • G. Marangi
  • E. Errichiello
  • S. Arepalli
  • C. Letson
  • C.W. Edsall
  • M.F. Keller
  • J.R. Gibbs
  • J.O. Johnson
  • Y. Abramzon
  • D.G. Hernandez
  • A.B. Singleton
  • B.J. Traynor


Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease, the genetic etiology of which is largely unknown. Genome-wide association studies (GWAS) have been powerful tools for unraveling the genomic architecture of ALS. To further elucidate this architecture, we designed the NeuroX genotyping platform which includes both standard GWAS exonic variants from Illumina’s HumanExome BeadChip array and ALS-specific custom variants designed to further map the regions of previously described ALS genes and replicate a recent meta-GWAS (ALSGEN Consortium, 2013). NeuroX was used to genotype more than 11,000 ALS cases and controls constituting one of the largest genetic studies ever conducted on ALS. High cluster quality indicated that data quality was excellent. Statistical analyses will be conducted both to replicate and to discover novel susceptibility and age of onset loci. Approximately 15% of ALS cases are explained by known pathogenic mutations, the most prevalent of which is the C9ORF72 hexanucleotide expansion, which explains 10% of disease. Thus, a conditional analysis will also be conducted to determine phenotype modifier loci in carriers of the C9ORF72 hexanucleotide expansion.

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