Abstract
BackgroundStroke is the second most common cause of death and disability worldwide. It is a multi-factorial disease influenced by both environmental and genetic factors. Studies from the different ethnic regions of world have reported variable results on association of Apolioprotein E (APOE), Methylenetetrahydrofolate reductase (MTHFR), Endothelial Nitric Oxide Synthase (ENOS), Factor V Leiden (F5), Cytochrome P450 4F2 (CYP4F2), beta-fibrinogen and Phosphodiesterase 4D (PDE4D) gene in stroke. There has been substantial evidence from the European descent genetic studies showing that genetic risk of stroke varies as per specific subtypes of ischemic stroke.This study aims to test the hypothesis that above mentioned encoding gene polymorphisms are associated with stroke and to determine whether risk varies as per specific subtypes of stroke.Methods/DesignThe study design would be case–control study. Six hundred cases with diagnosis of stroke and 600 age and sex matched controls will be recruited. Controls will be matched in 1:1 ratio. Baseline and demographic data will be collected in standardized data collection form. Four ml of blood will be collected in EDTA coated vial and will be used for DNA isolation. Genotyping will be done by using PCR-RFLP method. For the reconfirmation of RFLP results, PCR product of each genotype in triplet for all the selected polymorphism will be sent for DNA sequencing. Data will be analyzed using conditional logistic regression to determine odds ratio associated with the above genes.DiscussionThis protocol will assess the association of above mentioned gene polymorphisms with ischemic stroke in North Indian Population. This study will also helpful to determine genetic component of stroke and whether variation in genetic risk as per different subtypes of stroke.
Highlights
Stroke is the second most common cause of death and disability worldwide
This protocol will assess the association of above mentioned gene polymorphisms with ischemic stroke in North Indian Population
The objectives of the present study are (i) to determine association of putative risk factor gene polymorphisms (Table 1) and their haplotypes in ischemic stroke with different subtypes of ischemic stroke in North Indian population, (ii) to investigate whether any association found between ischemic stroke and the panel of tested polymorphisms is influenced by sex, age, or smoking status and other environmental risk factors due to geneenvironment interactions, and (iii) to determine the frequency distribution of the above mentioned polymorphisms will be accordance with Hardy Weinberg equilibrium
Summary
Stroke is the second most common cause of death and disability worldwide. It is a multi-factorial disease influenced by both environmental and genetic factors. There has been substantial evidence from the European descent genetic studies showing that genetic risk of stroke varies as per specific subtypes of ischemic stroke. Stroke is a multi-factorial polygenic, complex disease resulting from combination of vascular, environmental and genetic factors [6]. Twin and family-based association studies have suggested the substantial genetic component of stroke [7]. There is nearly several fold increase in the prevalence of stroke among the monozygotic compared with the dizygotic twin pairs suggest that substantial contribution of genetic in the risk of stroke [8]
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