Kumar Pramod, Mishra Aparna, Prasad Manoj K, Verma Vivek, Kumar Amit
Biochemistry, Rajendra Institute of Medical Sciences, Ranchi, IND.
Neuroanaesthesiology, All India Institute of Medical Sciences, New Delhi, IND.
Cureus. 2022 Aug 20;14(8):e28218. doi: 10.7759/cureus.28218. eCollection 2022 Aug.
Discovery and validation of genetic factors for multifactorial and polygenic disorders like stroke are needed to make progress in precision medicine. Although some traditional risk factors for stroke have been identified, they do not fully explain the pathophysiological mechanism of ischemic stroke. The research of genetic risk factors is becoming increasingly relevant in the understanding of stroke mechanisms and the finding of population-specific therapeutic targets. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in homocysteine metabolism, and a high homocysteine level is a risk factor for stroke. Using a meta-analysis technique, we investigated the link between the MTHFR C677T gene polymorphism and the risk of ischemic stroke. We used the electronic databases PubMed, Medline, Embase, and Google Scholar to find articles in the Journal of Stroke. If heterogeneity was more than 50%, pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using a random-effects model; otherwise, a fixed-effects model was used. A total of 67 case-control studies with 17,704 cases and 21,981 controls met our inclusion criteria. The Asian population was represented by 41 studies, whereas the Caucasian population was represented by 26. Under the recessive model, a gene polymorphism at the 677 location of the MTHFR gene is related to an elevated risk of ischemic stroke (OR: 1.29, 95% CI: 1.22-1.37, P < 0.001). People who have the MTHFR C677T gene polymorphism have a greater risk of stroke than people who do not.
为了在精准医学方面取得进展,需要发现并验证像中风这样的多因素和多基因疾病的遗传因素。尽管已经确定了一些中风的传统风险因素,但它们并不能完全解释缺血性中风的病理生理机制。遗传风险因素的研究在理解中风机制和寻找针对特定人群的治疗靶点方面变得越来越重要。亚甲基四氢叶酸还原酶(MTHFR)基因参与同型半胱氨酸代谢,高同型半胱氨酸水平是中风的一个风险因素。我们使用荟萃分析技术,研究了MTHFR C677T基因多态性与缺血性中风风险之间的联系。我们利用电子数据库PubMed、Medline、Embase和谷歌学术搜索《中风杂志》上的文章。如果异质性超过50%,则使用随机效应模型计算合并比值比(OR)及其95%置信区间(CI);否则,使用固定效应模型。共有67项病例对照研究符合我们的纳入标准,其中包括17704例病例和21981例对照。亚洲人群的研究有41项,白种人群的研究有26项。在隐性模型下,MTHFR基因677位点的基因多态性与缺血性中风风险升高有关(OR:1.29,95%CI:1.22 - 1.37,P < 0.001)。携带MTHFR C677T基因多态性的人比不携带的人患中风的风险更大。