Department of Neurology, Room No, 704, Neurosciences Centre, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
BMC Neurol. 2013 Oct 3;13:136. doi: 10.1186/1471-2377-13-136.
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. 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/DESIGN: The 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.
This 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.
中风是全球第二大致死和致残原因。它是一种受环境和遗传因素共同影响的多因素疾病。来自世界不同种族地区的研究报告了载脂蛋白 E (APOE)、亚甲基四氢叶酸还原酶 (MTHFR)、内皮型一氧化氮合酶 (ENOS)、因子 V 莱顿 (F5)、细胞色素 P450 4F2 (CYP4F2)、β-纤维蛋白原和磷酸二酯酶 4D (PDE4D) 基因与中风之间的关联存在差异。来自欧洲血统遗传研究的大量证据表明，中风的遗传风险因缺血性中风的特定亚型而异。本研究旨在检验上述编码基因突变与中风相关的假设，并确定风险是否因中风的特定亚型而异。
方法/设计：研究设计将是病例对照研究。将招募 600 例确诊为中风的病例和 600 名年龄和性别匹配的对照。对照组将按 1:1 的比例匹配。将在标准化数据收集表中收集基线和人口统计学数据。采集 4ml EDTA 涂层采血管中的血液，用于 DNA 分离。将使用 PCR-RFLP 方法进行基因分型。为了确认 RFLP 结果，将对所有选定多态性的每个基因型的 PCR 产物进行三重测序，以进行 DNA 测序。将使用条件逻辑回归分析数据，以确定与上述基因相关的优势比。
本方案将评估上述基因突变与印度北部人群缺血性中风的关联。该研究还有助于确定中风的遗传成分以及遗传风险是否因不同的中风亚型而有所不同。
