title: A novel candidate region for ALS on chromosome 14q11.2.
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.
authors.affiliation: Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland. mattgreenway@rcsi.ie
authors.forename: M J
authors.initials: MJ
authors.lastname: Greenway
authors.forename: M D
authors.initials: MD
authors.lastname: Alexander
authors.forename: S
authors.initials: S
authors.lastname: Ennis
authors.forename: B J
authors.initials: BJ
authors.lastname: Traynor
authors.forename: B
authors.initials: B
authors.lastname: Corr
authors.forename: E
authors.initials: E
authors.lastname: Frost
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: O
authors.initials: O
authors.lastname: Hardiman
mesh_terms: D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D002874:Chromosome Mapping; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003062:Codon / Q000235:genetics; D015331:Cohort Studies; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007494:Ireland / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012259:Ribonuclease, Pancreatic / Q000235:genetics* / Q000502:physiology; D042461:Vascular Endothelial Growth Factor A / Q000502:physiology
chemical_list: D003062:Codon; D042461:Vascular Endothelial Growth Factor A; C046366:angiogenin; D012259:Ribonuclease, Pancreatic; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase