A novel candidate region for ALS on chromosome 14q11.2.
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.
Greenway
M J
MJ
Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland. mattgreenway@rcsi.ie
Alexander
M D
MD
Ennis
S
S
Traynor
B J
BJ
Corr
B
B
Frost
E
E
Green
A
A
Hardiman
O
O
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
D003062:Codon; D042461:Vascular Endothelial Growth Factor A; C046366:angiogenin; D012259:Ribonuclease, Pancreatic; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase