1 Cardiology Department, ABC Hospital Observatorio, CDMX, Mexico.
2 Immunology Department, Instituto Nacional de Cardiología Ignacio Chávez and Research Coordination, ABC Hospital Observatorio, CDMX, Mexico.
Clin Appl Thromb Hemost. 2019 Jan-Dec;25:1076029618780344. doi: 10.1177/1076029618780344. Epub 2018 Jun 19.
The activity of the enzyme methylenetetrahydrofolate reductase (MTHFR) determines homocysteine (Hcy) levels, and polymorphisms in its gene affect the activity of the enzyme. Changes in the enzyme's activity may lead to a higher susceptibility to develop arterial and venous thromboembolic disease. The aim was to analyze the relationship between the C677T and A1298C polymorphisms of MTHFR, Hcy levels, and prothrombotic biomarkers in pulmonary embolism (PE) and acute myocardial ischemia (AMI). Clinical files of patients with thromboembolic diseases having complete data and whose doctor had requested an assay to determine the polymorphisms of the MTHFR gene, Hcy levels, and prothrombotic biomarkers were studied to search for the correlation between mutations of the MTHFR gene and Hcy levels in the different diseases. We included 334 files: 158 were from women and 176 from men (51 [19 SD] years). Sixty-three percent have had thrombosis, 8% AMI, and 31% PE. Patients with thrombosis had elevated frequency of the C677T polymorphism. The CC genotype was higher than the TT genotype ( P = .003) and CT versus the TT ( P = .009). In patients with PE, the CC genotype was higher than the TT genotype ( P = .038). Pulmonary embolism with massive and submassive events had predominant genotypes 677 TT ( P = .003) and the AA 1298 ( P = .017). Elevated Hcy levels in the presence of the T allele in the C677T gene and of the A allele in the A1298C gene are associated with AMI and massive and submassive PE.
亚甲基四氢叶酸还原酶（MTHFR）的活性决定了同型半胱氨酸（Hcy）的水平，其基因的多态性影响酶的活性。酶活性的变化可能导致更高的易感性发展为动脉和静脉血栓栓塞性疾病。目的是分析 MTHFR 的 C677T 和 A1298C 多态性、Hcy 水平与肺栓塞（PE）和急性心肌缺血（AMI）中的促血栓生物标志物之间的关系。研究了具有完整数据的血栓栓塞性疾病患者的临床档案，并且其医生要求进行测定以确定 MTHFR 基因、Hcy 水平和促血栓生物标志物的多态性，以寻找 MTHFR 基因突变与不同疾病中 Hcy 水平之间的相关性。我们纳入了 334 份档案：158 份来自女性，176 份来自男性（51 [19 标准差] 岁）。63%有血栓形成，8%有 AMI，31%有 PE。有血栓形成的患者 C677T 多态性的发生频率升高。CC 基因型高于 TT 基因型（P=.003），CT 与 TT 相比（P=.009）。在 PE 患者中，CC 基因型高于 TT 基因型（P=.038）。有大量和亚大量事件的肺栓塞具有优势基因型 677 TT（P=.003）和 AA 1298（P=.017）。C677T 基因中的 T 等位基因和 A1298C 基因中的 A 等位基因存在时 Hcy 水平升高与 AMI 和大量及亚大量 PE 相关。
