1 Department of Neurology, 2 Center for Biomedical Research (CEBIOR), 3 Department of Internal Medicine, Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
Ann Transl Med. 2015 Dec;3(21):324. doi: 10.3978/j.issn.2305-5839.2015.12.22.
Hyperhomocysteinemia is associated with an increased risk of atherosclerosis. The main cause of elevated levels of homocysteine is 677T allele, the gene encoded by methylenetetrahydrofolate reductase (MTHFR). Carotid atherosclerosis progression, which can be measured by examination of carotid intima-media thickness (C-IMT), is a predictor of recurrent ischemic stroke. The objective of this study was to determine a relationship between MTHFR polymorphism, homocysteine levels, and increased C-IMT in post- ischemic stroke patients.
This was an epidemiological prospective observational cohort study involving 71 patients with post-ischemic stroke subject of the first (onset 1 month) admitted in the Neurology Clinic of Kariadi Hospital during 2012 to 2013. C-IMT was examined using carotid duplex ultrasound at 1(st), 6(th), and 12(th) month after stroke onset. MTHFR gene polymorphism was examined using polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP). Homocysteine level was measured using Axis(®) Homocysteine EIA.
We found 3 categories of MTHFR gene variation, i.e., 677T/T, 677T/C, and 677C/C. The most frequent allele was MTHFR 677C (88.9%), while the MTHFR 677T allele frequency was 11.1%. The majority allele of the subject population was 677C/C, however, there were 3 subjects (4.2%) who had 677T/T allele. The 677T/T allele group had normal homocysteine level and the lowest mean C-IMT among others.
This study supports that the MTHFR 677T allele polymorphism is not associated with hyperhomocysteinemia as well as an increase in C-IMT in post ischemic stroke patients.
高同型半胱氨酸血症与动脉粥样硬化风险增加有关。同型半胱氨酸水平升高的主要原因是 677T 等位基因,该基因由亚甲基四氢叶酸还原酶(MTHFR)编码。颈动脉内膜中层厚度(C-IMT)的增加可以衡量颈动脉粥样硬化的进展,是复发性缺血性卒中的预测因素。本研究的目的是确定 MTHFR 多态性、同型半胱氨酸水平与缺血性卒中后患者 C-IMT 增加之间的关系。
这是一项前瞻性观察性队列研究,纳入了 2012 年至 2013 年间在卡里阿迪医院神经病学诊所首次(发病后 1 个月)入院的 71 例缺血性卒中患者。在卒中发病后 1 个月、6 个月和 12 个月时使用颈动脉双功能超声检查 C-IMT。使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测 MTHFR 基因多态性。使用 Axis(®)同型半胱氨酸 EIA 测量同型半胱氨酸水平。
我们发现 MTHFR 基因变异有 3 种类型,即 677T/T、677T/C 和 677C/C。最常见的等位基因为 MTHFR 677C(88.9%),而 MTHFR 677T 等位基因频率为 11.1%。研究人群的优势等位基因为 677C/C,但有 3 名受试者(4.2%)携带 677T/T 等位基因。677T/T 等位基因组的同型半胱氨酸水平正常,C-IMT 平均值最低。
本研究支持 MTHFR 677T 等位基因多态性与缺血性卒中后高同型半胱氨酸血症以及 C-IMT 增加无关。