[亚甲基四氢叶酸还原酶基因与缺血性脑卒中的关系]

[Relationship between methylenetrahydrofolate reductase gene and ischemic stroke].

作者信息

Li Cai-ming, Zhang Cheng, Lu Xi-lin, Feng Hui-yu, Su Quan-xi, Zeng Ying, Zhang Hong-lian, Qiu Shu-lian

机构信息

Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong, China.

出版信息

Zhongguo Wei Zhong Bing Ji Jiu Yi Xue. 2006 May;18(5):264-7.

PMID:16700986

Abstract

OBJECTIVE

To study the relationship between methylenetrahydrofolate reductase (MTHFR) gene and ischemic stroke.

METHODS

Four hundred and fifty four ischemic stroke patients were enrolled in the study. They were divided into large artery atherosclerosis (LAA), cardioembolism (CE), small artery occlusion (SAA), stroke of other determined etiology (SOE) and stroke of undetermined etiology (SUE) according to TOAST (Trail of ORG 10172 in Acute Stroke Treatment) criteria; and they were divided into mild, moderate and severe types ischemic stroke according to their scores of neurologic impairment. Three hundred and thirty four subjects, in whom hypertension, coronary heart disease, cerebral vascular disease, diabetes mellitus, cancer, renal failure etc. were excluded, served as controls in the study. Their C677T polymorphisms of MTHFR gene were determined with polymerase chain reaction (PCR) and denaturing high performance liquid chromatography (DHPLC), and their risk factors of ischemic stroke were recorded at the same time.

RESULTS

The frequencies of CC, CT and TT genotype in ischemic stroke were 51.8%, 40.5% and 7.7%, respectively, and they were 56.9%, 38.3% and 4.8% respectively in controls. TT genotype and T allele were associated with LAA and CE, moderate type and severe type of ischemic stroke. The frequencies of TT genotype and T allele in ischemic stroke patients were significantly higher in those with smoking, alcohol abuse or diabetes mellitus than those in controls (all P<0.10), but CC genotype and C allele were significantly lower in them than those in controls (all P<0.05). On the other hand, all of genotypes and alleles in ischemic stroke patients with no history of smoking, alcohol abuse or diabetes mellitus were not significantly different from those in controls.

CONCLUSION

TT genotype and T allele are risk factors for ischemic stroke. It exists interactions between smoking, alcohol abuse, diabetes mellitus and MTHFR gene in the pathogenesis of ischemic stroke.

摘要

目的

研究亚甲基四氢叶酸还原酶（MTHFR）基因与缺血性脑卒中的关系。

方法

选取454例缺血性脑卒中患者纳入研究。根据TOAST（急性卒中治疗中ORG 10172的试验）标准将其分为大动脉粥样硬化型（LAA）、心源性栓塞型（CE）、小动脉闭塞型（SAA）、其他明确病因的卒中（SOE）和病因不明的卒中（SUE）；并根据神经功能缺损评分将其分为轻度、中度和重度缺血性脑卒中。选取334例排除高血压、冠心病、脑血管病、糖尿病、癌症、肾衰竭等疾病的受试者作为研究对照。采用聚合酶链反应（PCR）和变性高效液相色谱（DHPLC）检测其MTHFR基因的C677T多态性，同时记录其缺血性脑卒中的危险因素。

结果

缺血性脑卒中患者中CC、CT和TT基因型频率分别为51.8%、40.5%和7.7%，对照组分别为56.9%、38.3%和4.8%。TT基因型和T等位基因与LAA、CE、中度和重度缺血性脑卒中相关。缺血性脑卒中患者中，有吸烟、酗酒或糖尿病史者的TT基因型和T等位基因频率显著高于对照组（均P<0.10），但CC基因型和C等位基因频率显著低于对照组（均P<0.05）。另一方面，无吸烟、酗酒或糖尿病史的缺血性脑卒中患者的所有基因型和等位基因与对照组相比差异均无统计学意义。