AffiliationDepartment of Neurology, Beaumont Hospital, Dublin, Ireland.
Amyotrophic Lateral Sclerosis
Genetic Predisposition to Disease
Polymorphism, Single Nucleotide
Sequence Analysis, DNA
Vascular Endothelial Growth Factor A
MetadataShow full item record
CitationScreening of hypoxia-inducible genes in sporadic ALS. 2008, 9 (5):299-305 Amyotroph Lateral Scler
JournalAmyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
AbstractGenetic variations in two hypoxia-inducible angiogenic genes, VEGF and ANG, have been linked with sporadic amyotrophic lateral sclerosis (SALS). Common variations in these genes may reduce the levels or functioning of their products. VEGF and ANG belong to a larger group of angiogenic genes that are up-regulated under hypoxic conditions. We hypothesized that common genetic variation across other members of this group may also predispose to sporadic ALS. To screen other hypoxia-inducible angiogenic genes for association with SALS, we selected 112 tagging single nucleotide polymorphisms (tgSNPs) that captured the common genetic variation across 16 VEGF-like and eight ANG-like hypoxia-inducible genes. Screening for association was performed in 270 Irish individuals with typical SALS and 272 ethnically matched unrelated controls. SNPs showing association in the Irish phase were genotyped in a replication sample of 281 Swedish sporadic ALS patients and 286 Swedish controls. Seven markers showed association in the Irish. The one modest replication signal observed in the Swedish replication sample, at rs3801158 in the gene inhibin beta A, was for the opposite allele vs. the Irish cohort. We failed to detect association of common variation across 24 candidate hypoxia-inducible angiogenic genes with SALS.
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- Issue date: 2010 Nov 10
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- Authors: Conforti FL, Sprovieri T, Mazzei R, Ungaro C, La Bella V, Tessitore A, Patitucci A, Magariello A, Gabriele AL, Tedeschi G, Simone IL, Majorana G, Valentino P, Condino F, Bono F, Monsurrò MR, Muglia M, Quattrone A
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- Authors: Del Bo R, Scarlato M, Ghezzi S, Martinelli-Boneschi F, Corti S, Locatelli F, Santoro D, Prelle A, Briani C, Nardini M, Siciliano G, Mancuso M, Murri L, Bresolin N, Comi GP
- Issue date: 2008 Feb