STROKENETICS · Stroke genetics
FP6 — Marie Curie Actions (Human Resources and Mobility)
- Duration
- 2004-09-01 → 2006-08-31
- EU contribution
- €80,000
- Participants
- 1
- Scheme
- IRG
Lines connect the coordinator with its partners. CORDIS does not always give exact coordinates for projects before 2014. These points are placed at city or country level.
Results in brief
Final Activity Report Summary - STROKENETICS (Stroke genetics)
Stroke, a 'brain attack' cutting off vital blood to the brain cells, is the second cause of death worldwide but the leading cause of death in Portugal. Stroke is even more disabling than lethal and requires more effective prevention and treatment strategies. It is a complex disease resulting from the interplay of environmental and genetic factors, but very few genetic factors for the common form of stroke have been identified. To identify additional susceptibility genes we are conducting the novel 'genomic convergence' approach combining data from whole-genome linkage screens with data from gene profiling analyses to determine which genes will be tested in association studies. Our biobank with clinical information and biological samples has grown actively and we conducted gene expression analyses in peripheral blood mononuclear cells of carefully matched cases and controls. Preliminary data from 5 cases and 6 controls identified 82 genes differentially expressed among both 'young' cases vs. 'young' controls (45-54y) and 'old' cases vs. 'old' controls (65-74y) with a 1.5 fold-change cut-off. Phosphodiesterase 4D (PDE4D), currently the strongest genetic risk factor known for stroke, emerged as the only gene differentially expressed mapping to the 5q12 linkage peak identified in the Icelandic population, validating this approach. We also identified a set of genes orthologous to rat genes mapping to linkage peaks in animal studies which will be prioritised for testing in association studies.
Data: CORDIS, © European Union
Project objective
The goal of this proposal is to create a stroke biobank to identify genes that influence the risk fordeveloping stroke, also called susceptibility genes. Stroke is the third leading cause of death in thedeveloped world. It is even more disabling than letha l, and the persistent neurological impairment andphysical disability caused by stroke have a substantial socioeconomic cost. Stroke is a complexdisease resulting from the interplay of environmental and genetic factors. Major known risk factorsinclude famil y history, age, hypertension, hypercholesterolemia, diabetes, cardiovascular disease,smoking and alcohol consumption. Identification of genes increasing susceptibility to stroke wouldhave far-reaching public health impact, from enhancing motivation to make behavioral and lifestylechanges in susceptible individuals to providing basic biological and clinical information about thedevelopment, prevention and treatment of stroke.The genetic component has been demonstrated in twin and family studies, in animal mo del studies,and mutations have been found in several genes in rare classical Mendelian forms of stroke. However,very few susceptibility genes specific for the common forms of stroke have been identified andassociation studies have mostly reported conflicti ng results. We wilt use a novel genomic convergenceapproach that combines genomic screening, expression analysis, and association studies to identifysusceptibility genes.The first and key step in this endeavor is the creation of a high quality stroke bioba nk. During thetwo years of this grant we specifically propose to:1. Define the participating criteria (e.g. inclusion and exclusion criteria) and the information to becollected (e.g. clinical history and environmental exposures).2. Collect the biological s amples and information from 800 individuals originating from 200Portuguese multiplex families with ischemie stroke, CADASIL and cavernous#
Original text from CORDIS.
Participants
- FUNDA¿O CALOUSTE GULBENKIAN - INSTITUTO GULBENKIAN DE CI¿CIA · LISBOACoordinatorCity levelPortugal
Links
Data: CORDIS, © European Union