A genome-wide association study using a DNA pooling strategy identifies BBS9 an...

• Autor(es): Manso, H. ; Paulos-Pinheiro, S. ; Krug, T. ; Sobral, J. ; Albergaria, I. ; Gaspar, G. ; Ferro, J.M. ; Oliveira, S.A. ; Vicente, A.M.
• Data: 2011
• Identificador Persistente: http://hdl.handle.net/10400.18/357
• Origem: Repositório Científico do Instituto Nacional de Saúde
• Assunto(s): Doenças Cardio e Cérebro-vasculares
• Tipo de Documento: Documento de conferência
• Idioma: Inglês

Descrição

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 ).