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Please use this identifier to cite or link to this item: http://hdl.handle.net/10400.18/124

Title: Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort
Authors: Gouveia, Liliana O.
Sobral, João
Vicente, Astrid M.
Ferro, José M.
Oliveira, Sofia A.
Keywords: CELSR1
Association
Ischemic stroke
GWAS
Doenças Cardio e Cérebro-vasculares
Issue Date: Jul-2011
Publisher: Elsevier
Citation: Atherosclerosis. 2011 Jul;217(1):260-2. Epub 2011 Mar 29
Abstract: OBJECTIVES: Replication of GWAS association findings remains the gold standard for results validation. Our aim was to test the association of four polymorphisms (rs1671021 in LLGL2, rs753307 in RUVBL2, rs6007897 and rs4044210 in CELSR1) previously identified as ischemic stroke (IS) risk factors in a phased GWAS performed on 6341 Japanese individuals [1]. METHODS: These polymorphisms were genotyped in a Portuguese sample of 566 IS cases and 525 controls, and their allele, genotype and haplotype associations were assessed. RESULTS: rs6007897 and rs4044210 in CELSR1 were associated with stroke risk individually (OR[95%CI]=1.43[1.13-1.81], p=0.003 and 1.38[1.09-1.74], p=0.007, respectively), and in combination as a haplotype. These associations remain after correction for multiple testing and in a meta-analysis with the original findings. The other polymorphisms were not associated. CONCLUSIONS: Our study independently confirmed for the first time the association between IS and CELSR1. This finding and the mechanisms by which these genetic variants exert their effects on stroke pathogenesis warrant further replication and investigation
Peer Reviewed: yes
URI: http://hdl.handle.net/10400.18/124
ISSN: 0021-9150
Appears in Collections:DPSPDNT - Artigos em revistas internacionais

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