A large genome scan for rare CNVs in amyotrophic lateral sclerosis

Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4.

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide association studies (GWASs) have identified several common variants which increase disease susceptibility. In contrast, rare copy-number variants (CNVs), which have been associated with several neuropsychiatric traits, have not been studied for ALS in well-powered study populations. To examine the role of rare CNVs in ALS susceptibility, we conducted a CNV association study including over 19,000 individuals. In a genome-wide screen of 1875 cases and 8731 controls, we did not find evidence for a difference in global CNV burden between cases and controls. In our association analyses, we identified two loci that met our criteria for follow-up: the DPP6 locus (OR = 3.59, P = 6.6 × 10(-3)), which has already been implicated in ALS pathogenesis, and the 15q11.2 locus, containing NIPA1 (OR = 12.46, P = 9.3 × 10(-5)), the gene causing hereditary spastic paraparesis type 6 (HSP 6). We tested these loci in a replication cohort of 2559 cases and 5887 controls. Again, results were suggestive of association, but did not meet our criteria for independent replication: DPP6 locus: OR = 1.92, P = 0.097, pooled results: OR = 2.64, P = 1.4 × 10(-3); NIPA1: OR = 3.23, P = 0.041, pooled results: OR = 6.20, P = 2.2 × 10(-5)). Our results highlight DPP6 and NIPA1 as candidates for more in-depth studies. Unlike other complex neurological and psychiatric traits, rare CNVs with high effect size do not play a major role in ALS pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics*
  • Case-Control Studies
  • DNA Copy Number Variations*
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / genetics*
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome, Human
  • Genome-Wide Association Study*
  • Humans
  • Membrane Proteins / genetics*
  • Motor Neurons
  • Nerve Tissue Proteins / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Potassium Channels / genetics*
  • Risk Factors
  • Spastic Paraplegia, Hereditary / genetics

Substances

  • Membrane Proteins
  • NIPA1 protein, human
  • Nerve Tissue Proteins
  • Potassium Channels
  • DPP6 protein, human
  • Dipeptidyl-Peptidases and Tripeptidyl-Peptidases