Kumar Amit, Misra Shubham, Sagar Ram, Kumar Pradeep, Yadav Arun K, Talwar Pumanshi, Raj Ritesh, Prasad Kameshwar
Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Ann Indian Acad Neurol. 2017 Jul-Sep;20(3):284-288. doi: 10.4103/aian.AIAN_31_17.
Factor V Leiden is the most common genetic variation among the blood coagulation pathway which leads to prothrombotic state, therefore, is considered an important gene for understating the stroke mechanism.
The aim of the present study is to determine the relationship between single nucleotide polymorphism at G1691A position of Factor V gene and risk of ischemic stroke (IS) in North Indian population.
In a retrospective case-control study, 250 patients with IS and 250 age- and gender-matched controls were enrolled in the period of October 2012 to September 2014 from in- and out-patient department of Neurology, All India Institute of Medical Sciences, New Delhi, India. Deoxyribonucleic acid for each case and control was isolated from peripheral blood using phenol-chloroform extraction method. Polymerase chain reaction-restriction fragment length polymorphism method was used to determine the polymorphism. Data were analyzed using STATA Software Version 13.
The mean age of IS patient was 52.8 ± 12.5 years and in control group was 50.97 ± 12.7 years. Genotypic frequency distributions were in accordance with Hardy-Weinberg equilibrium in both cases and controls. As expected hypertension, diabetes, dyslipidemia, smoking, heavy alcohol intake, family history of stroke, and poor economic status were significantly associated with the risk of IS. Multivariate analysis revealed 5.17 times higher odds for developing the risk of large vessel subtype of IS in patients carrying Factor V Leiden G1691A gene variation as compared to control subjects (OR, 5.17; 95% CI, 1.32-20.3, = 0.01).
The present study suggests that Factor V Leiden G1691A polymorphism may be significantly associated with the risk of large vessel subtype of IS. Large sample size studies using prospective cohort designs are required to corroborate the present findings.
凝血因子V莱顿突变是凝血途径中最常见的导致血栓前状态的基因变异，因此，被认为是理解中风机制的一个重要基因。
本研究旨在确定印度北部人群中凝血因子V基因G1691A位点单核苷酸多态性与缺血性中风（IS）风险之间的关系。
在一项回顾性病例对照研究中，2012年10月至2014年9月期间，从印度新德里全印医学科学研究所神经科门诊和住院部招募了250例IS患者和250例年龄及性别匹配的对照。采用酚-氯仿提取法从外周血中分离每个病例和对照的脱氧核糖核酸。使用聚合酶链反应-限制性片段长度多态性方法确定多态性。数据使用STATA软件版本13进行分析。
IS患者的平均年龄为52.8±12.5岁，对照组为50.97±12.7岁。病例组和对照组的基因型频率分布均符合哈迪-温伯格平衡。正如预期的那样，高血压、糖尿病、血脂异常、吸烟、大量饮酒、中风家族史和经济状况差与IS风险显著相关。多变量分析显示，携带凝血因子V莱顿G1691A基因变异的患者发生IS大血管亚型风险的几率比对照受试者高5.17倍（比值比，5.17；95%可信区间，1.32 - 20.3，P = 0.01）。
本研究表明，凝血因子V莱顿G1691A多态性可能与IS大血管亚型风险显著相关。需要使用前瞻性队列设计进行大样本量研究来证实本研究结果。
