A novel candidate region for ALS on chromosome 14q11.2 |
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Authors: | Greenway M J Alexander M D Ennis S Traynor B J Corr B Frost E Green A Hardiman O |
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Institution: | Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland. mattgreenway@rcsi.ie |
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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. |
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