Dong Xiaobo, Wang Jun, Wang Gesheng, Wang Jiayue, Wang Lei, Du Yong
The Third department of Encephalopathy, Dongfang Hospital Beijing University of Chinese Medicine, No. 6, Area 1, Fangxing Garden Fangzhuang, Fengtai District, Beijing, 100078, China.
Department of Neurology, Chinese PLA General Hospital, Beijing, 100039, China.
Genes Environ. 2021 Sep 25;43(1):40. doi: 10.1186/s41021-021-00208-z.
Previous studies have shown the effect of MTHFR A1298C gene polymorphism on stroke risk. But the results of published studies remained inconclusive and controversial. So we conducted a meta-analysis to accurately estimate the potential association between MTHFR A1298C gene polymorphism and stroke susceptibility.
A systematic literature search on Embase, Pubmed, Web of Science, Cochrane Library, China National Knowledge Infrastructure (CNKI) and WanFang electronic database identified 40 articles including 5725 cases and 8655 controls. Strength of association was evaluated by pooled odds ratio (OR), 95% confidence interval (CI) and p value. Funnel plots and Begger's regression test were applied for testing the publication bias. Statistical analysis of all data was performed by Stata 12.0.
The meta-analysis results indicated a significant relationship between MTHFR gene A1298C polymorphisms and stoke risk under the C allelic genetic model (OR = 1.19, 95%CI = 1.07-1.32, p = 0.001), dominant genetic model (OR = 1.19, 95%CI = 1.06-1.33, p = 0.004) and recessive genetic model (OR = 1.43, 95%CI =1.15-1.77, p = 0.001). In subgroup analysis, we discovered obvious correlation in three genetic model of Asian, stroke type, adult by ethnicity, population, stroke type, source of control and case size. Additionally, in studies of control from hospital and case size equal 100, obvious correlation was also found in the three genetic model.
Our meta-analysis results indicated that there was evidence to support the correlation between MTHFR A1298C polymorphism and stroke susceptibility, especially in adults and ischemic stroke.
既往研究已表明亚甲基四氢叶酸还原酶（MTHFR）A1298C基因多态性对中风风险的影响。但已发表研究的结果仍无定论且存在争议。因此，我们进行了一项荟萃分析，以准确估计MTHFR A1298C基因多态性与中风易感性之间的潜在关联。
在Embase、Pubmed、科学网、考克兰图书馆、中国知网和万方电子数据库上进行系统的文献检索，共识别出40篇文章，包括5725例病例和8655例对照。通过合并比值比（OR）、95%置信区间（CI）和p值评估关联强度。采用漏斗图和Begger回归检验来检测发表偏倚。所有数据的统计分析均使用Stata 12.0进行。
荟萃分析结果表明，在C等位基因遗传模型（OR = 1.19，95%CI = 1.07 - 1.32，p = 0.001）、显性遗传模型（OR = 1.19，95%CI = 1.06 - 1.33，p = 0.004）和隐性遗传模型（OR = 1.43，95%CI = 1.15 - 1.77，p = 0.001）下，MTHFR基因A1298C多态性与中风风险之间存在显著关系。在亚组分析中，我们在亚洲人的三种遗传模型、中风类型、按种族、人群、中风类型、对照来源和病例数划分的成年人中发现了明显的相关性。此外，在来自医院的对照研究和病例数等于100的研究中，在三种遗传模型中也发现了明显的相关性。
我们的荟萃分析结果表明，有证据支持MTHFR A1298C多态性与中风易感性之间的相关性，尤其是在成年人和缺血性中风中。
