Unidad de Investigación Médica en Trombosis, Hemostasia y Aterogénesis, H.G.R. No. 1, Dr. Carlos MacGregor Sánchez Navarro, Instituto Mexicano del Seguro Social, México, D.F., México.
Arch Med Res. 2010 May;41(4):246-50. doi: 10.1016/j.arcmed.2010.04.008.
The C677T polymorphism of 5,10 methylenetetrahydrofolate reductase (MTHFR) gene has been associated with hypertension and coronary artery disease in several populations worldwide, but results are still controversial. The aim of this study was to examine the possible association of C677T polymorphism with ST-elevation myocardial infarction (STEMI) in young Mexican subjects.
In a case-control study, 167 unrelated patients < or = 45 years of age with diagnosis of STEMI who were admitted to a cardiovascular intense care unit and 167 unrelated controls subjects matched by age and gender were recruited from January 2006 and June 2009. The C677T polymorphism was determined in all participants by a polymerase chain reaction-restriction fragment length polymorphism assay (PCR-RFLP).
There was no significant difference in the genotype distribution between groups (p = 0.69) or allele frequency (p = 0.40). There were independent factors for STEMI: smoking (OR 4.9, 95% CI 3.0-8.1, p = 0.001), hypertension (OR 1.8, 95% CI 1.0-3.3, p = 0.03), family history of atherothrombotic disease (OR 2.3, 95% CI 2.0-4.6, p = 0.02), and dyslipidemia (OR 3.2, 95% CI 1.8-5.6, p <0.001). Diabetes mellitus did not represent an independent risk factor for STEMI (OR 1.2, 95% CI 0.2-2.2, p = 0.82).
The TT genotype from the C677T of 5,10 MTHFR gene is not an independent risk factor for STEMI in the Mexican population. However, more studies are needed to determine the possible "protective effect" of the C677T polymorphism in our population.
5,10 亚甲基四氢叶酸还原酶（MTHFR）基因的 C677T 多态性与全球多个人群的高血压和冠状动脉疾病有关，但结果仍存在争议。本研究旨在探讨 C677T 多态性与年轻墨西哥人群 ST 段抬高型心肌梗死（STEMI）的可能关联。
在一项病例对照研究中，2006 年 1 月至 2009 年 6 月，共招募了 167 名年龄≤45 岁且诊断为 STEMI 的无关联患者和 167 名年龄和性别匹配的无关联对照组。所有参与者的 C677T 多态性均通过聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）进行测定。
两组间基因型分布无显著差异（p=0.69）或等位基因频率无显著差异（p=0.40）。STEMI 的独立危险因素为：吸烟（OR=4.9，95%CI 3.0-8.1，p=0.001）、高血压（OR=1.8，95%CI 1.0-3.3，p=0.03）、动脉粥样血栓性疾病家族史（OR=2.3，95%CI 2.0-4.6，p=0.02）和血脂异常（OR=3.2，95%CI 1.8-5.6，p<0.001）。糖尿病不是 STEMI 的独立危险因素（OR=1.2，95%CI 0.2-2.2，p=0.82）。
5,10 MTHFR 基因的 C677T 基因型 TT 不是墨西哥人群 STEMI 的独立危险因素。然而，还需要更多的研究来确定 C677T 多态性在我们人群中可能的“保护作用”。
