Screening of hypoxia-inducible genes in sporadic ALS.

Hdl Handle:
http://hdl.handle.net/10147/136782
Title:
Screening of hypoxia-inducible genes in sporadic ALS.
Authors:
Cronin, Simon; Greenway, Matthew J; Andersen, Peter M; Hardiman, Orla
Affiliation:
Department of Neurology, Beaumont Hospital, Dublin, Ireland.
Citation:
Screening of hypoxia-inducible genes in sporadic ALS. 2008, 9 (5):299-305 Amyotroph Lateral Scler
Journal:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Issue Date:
Oct-2008
URI:
http://hdl.handle.net/10147/136782
DOI:
10.1080/17482960802160297
PubMed ID:
18608101
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed/18608101
Abstract:
Genetic 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.
Item Type:
Article
Language:
en
MeSH:
Aged; Amyotrophic Lateral Sclerosis; Anoxia; Female; Genetic Predisposition to Disease; Genetic Testing; Genotype; Humans; Ireland; Male; Middle Aged; Polymorphism, Single Nucleotide; Ribonuclease, Pancreatic; Sequence Analysis, DNA; Sweden; Vascular Endothelial Growth Factor A
ISSN:
1471-180X

Full metadata record

DC FieldValue Language
dc.contributor.authorCronin, Simonen
dc.contributor.authorGreenway, Matthew Jen
dc.contributor.authorAndersen, Peter Men
dc.contributor.authorHardiman, Orlaen
dc.date.accessioned2011-07-25T08:36:30Z-
dc.date.available2011-07-25T08:36:30Z-
dc.date.issued2008-10-
dc.identifier.citationScreening of hypoxia-inducible genes in sporadic ALS. 2008, 9 (5):299-305 Amyotroph Lateral Scleren
dc.identifier.issn1471-180X-
dc.identifier.pmid18608101-
dc.identifier.doi10.1080/17482960802160297-
dc.identifier.urihttp://hdl.handle.net/10147/136782-
dc.description.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.-
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed/18608101en
dc.subject.meshAged-
dc.subject.meshAmyotrophic Lateral Sclerosis-
dc.subject.meshAnoxia-
dc.subject.meshFemale-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshGenetic Testing-
dc.subject.meshGenotype-
dc.subject.meshHumans-
dc.subject.meshIreland-
dc.subject.meshMale-
dc.subject.meshMiddle Aged-
dc.subject.meshPolymorphism, Single Nucleotide-
dc.subject.meshRibonuclease, Pancreatic-
dc.subject.meshSequence Analysis, DNA-
dc.subject.meshSweden-
dc.subject.meshVascular Endothelial Growth Factor A-
dc.titleScreening of hypoxia-inducible genes in sporadic ALS.en
dc.typeArticleen
dc.contributor.departmentDepartment of Neurology, Beaumont Hospital, Dublin, Ireland.en
dc.identifier.journalAmyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseasesen
dc.description.provinceLeinster-

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