A novel candidate region for ALS on chromosome 14q11.2

Neurology. 2004 Nov 23;63(10):1936-8. doi: 10.1212/01.wnl.0000144344.39103.f6.

Abstract

Sequence variations with biologic effect in ALS have been identified in the gene for vascular endothelial growth factor (VEGF). The gene for a related protein, angiogenin, lies on chromosome 14q11.2. Analysis of the angiogenin (ANG) gene in the authors' population has demonstrated a significant allelic association with the rs11701 single nucleotide polymorphism (SNP) and identified a novel mutation in two individuals with sporadic ALS that potentially inhibits angiogenin function. These observations propose a candidate region for ALS on chromosome 14q11.2 and suggest that other genes with similar function to VEGF may be important in the pathogenesis of ALS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Alleles
  • Amino Acid Substitution
  • Amyotrophic Lateral Sclerosis / genetics*
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 14 / genetics*
  • Codon / genetics
  • Cohort Studies
  • DNA-(Apurinic or Apyrimidinic Site) Lyase / genetics
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Ireland / epidemiology
  • Male
  • Middle Aged
  • Mutation, Missense
  • Point Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide*
  • Ribonuclease, Pancreatic / genetics*
  • Ribonuclease, Pancreatic / physiology
  • Vascular Endothelial Growth Factor A / physiology

Substances

  • Codon
  • Vascular Endothelial Growth Factor A
  • angiogenin
  • Ribonuclease, Pancreatic
  • APEX1 protein, human
  • DNA-(Apurinic or Apyrimidinic Site) Lyase