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Título: A genome-wide association study using a DNA pooling strategy identifies BBS9 and GLIS3 as novel loci influencing patient’s outcome after stroke
Autor: Manso, H.
Paulos-Pinheiro, S.
Krug, T.
Sobral, J.
Albergaria, I.
Gaspar, G.
Ferro, J.M.
Oliveira, S.A.
Vicente, A.M.
Palavras-chave: Doenças Cardio e Cérebro-vasculares
Issue Date: Nov-2011
Editora: Instituto Nacional de Saúde Doutor Ricardo Jorge, IP
Resumo: Stroke is a major cause of morbidity in developed countries and therefore finding adequate treatments to promote patient’s recovery is a priority task, requiring the elucidation of the molecular pathways influencing brain recovery. Few studies, however, have assessed the role of genes in stroke outcome. This study describes a pilot genome-wide association study (GWAS) to identify genetic factors contributing to patient’s outcome, using a DNA pooling design. Methods: Patient’s outcome was assessed using the modified Rankin Scale (mRS) three months after stroke. Using the 250K Affymetrix GeneChip Mapping Assay® – Nsp I, we compared SNP allele frequencies in a pool of non-disabled stroke patients (N=87, mRS=0), with a pool of severely disabled or deceased patients (N=100, mRS>=3). The 100 most interesting SNPs were selected for validation by individual genotyping. Results: 36 SNPs were validated, showing significant differences between patients with extremely good and extremely poor outcome at three months (1.7x10-4 ).
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