TEDA International Cardiovascular Hospital, Medical College, Nankai University, Tianjin, PR China.
Arch Med Res. 2011 Nov;42(8):677-85. doi: 10.1016/j.arcmed.2011.11.009. Epub 2011 Dec 5.
The methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism has been reported to be associated with myocardial infarction (MI), but results from previous studies are conflicting. The present study aimed at investigating the association between this polymorphism and risk of MI using a meta-analysis on the published studies.
Medline, EBSCO, BIOSIS, and Cochrane Library were searched to identify eligible studies published in English before August, 2011. Data were extracted using standardized methods. The association was assessed by odds ratio (OR) with 95% confidence intervals (CI). Begg's test was used to measure publication bias.
A total of 30 case-control studies containing 8,140 MI cases and 10,522 controls were involved in this meta-analysis. Overall, significant association was found between MTHFR C677T polymorphism and risk of MI when all studies pooled with fixed-effects model for TT vs. CT (OR = 1.183, 95% CI: 1.076-1.300). In the subgroup analysis, the same association was found in overall Caucasians (OR = 1.139, 95% CI: 1.007-1.288) and young/middle-aged (<50 years) Caucasians (OR = 1.275, 95% CI: 1.077-1.509). No associations were detected between MTHFR C677T and the risk of MI in elderly male or female Caucasians, East Asians, South Asians, and African-Americans.
Meta-analysis results suggest that the MTHFR C677T polymorphism was associated with risk of MI in young/middle-aged Caucasians. The effect of the variants on the expression levels and the possible functional role of the variants in MI should be addressed in further studies.
亚甲基四氢叶酸还原酶（MTHFR）基因 C677T 多态性与心肌梗死（MI）有关，但先前的研究结果存在矛盾。本研究旨在通过对已发表的研究进行荟萃分析，探讨该多态性与 MI 风险之间的关系。
检索 Medline、EBSCO、BIOSIS 和 Cochrane 图书馆，以确定 2011 年 8 月前发表的英文研究。使用标准化方法提取数据。使用比值比（OR）和 95%置信区间（CI）评估相关性。采用 Begg 检验评估发表偏倚。
本荟萃分析共纳入 30 项病例对照研究，包括 8140 例 MI 病例和 10522 例对照。总体上，采用固定效应模型进行 TT 与 CT 比较时，MTHFR C677T 多态性与 MI 风险之间存在显著相关性（OR=1.183，95%CI：1.076-1.300）。亚组分析显示，总体白种人中也存在相同的相关性（OR=1.139，95%CI：1.007-1.288），年轻/中年（<50 岁）白种人中的相关性更为显著（OR=1.275，95%CI：1.077-1.509）。在老年白种男性或女性、东亚人、南亚人和非裔美国人中，MTHFR C677T 与 MI 风险之间没有相关性。
荟萃分析结果表明，MTHFR C677T 多态性与年轻/中年白种人 MI 风险相关。应在进一步的研究中探讨这些变体对表达水平的影响以及它们在 MI 中的可能功能作用。
