Publication
A genome-wide association study using a DNA pooling strategy identifies BBS9 and GLIS3 as novel loci influencing patient’s outcome after stroke
| dc.contributor.author | Manso, H. | |
| dc.contributor.author | Paulos-Pinheiro, S. | |
| dc.contributor.author | Krug, T. | |
| dc.contributor.author | Sobral, J. | |
| dc.contributor.author | Albergaria, I. | |
| dc.contributor.author | Gaspar, G. | |
| dc.contributor.author | Ferro, J.M. | |
| dc.contributor.author | Oliveira, S.A. | |
| dc.contributor.author | Vicente, A.M. | |
| dc.date.accessioned | 2012-01-12T11:29:39Z | |
| dc.date.available | 2012-01-12T11:29:39Z | |
| dc.date.issued | 2011-11 | |
| dc.description.abstract | 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 ). | por |
| dc.description.sponsorship | This work was supported by the grant PTDC/SAU-GMG/64426/2006, Fundação para a Ciência e Tecnologia (FCT). Helena Manso and Tiago Krug were supported by FCT fellowships. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/357 | |
| dc.language.iso | eng | por |
| dc.publisher | Instituto Nacional de Saúde Doutor Ricardo Jorge, IP | por |
| dc.subject | Doenças Cardio e Cérebro-vasculares | por |
| dc.title | A genome-wide association study using a DNA pooling strategy identifies BBS9 and GLIS3 as novel loci influencing patient’s outcome after stroke | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Lisboa - Portugal | por |
| oaire.citation.title | 15ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 10-12 Novembro 2011 | por |
| rcaap.rights | openAccess | por |
| rcaap.type | conferenceObject | por |