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亚甲基四氢叶酸还原酶基因 C677T 多态性与墨西哥裔年轻人群的特发性缺血性脑卒中相关。

The C677T polymorphism of the methylenetetrahydrofolate reductase gene is associated with idiopathic ischemic stroke in the young Mexican-Mestizo population.

机构信息

Hospital Angeles del Pedregal, Querétaro, México City, México.

出版信息

Cerebrovasc Dis. 2010;29(5):454-9. doi: 10.1159/000289349. Epub 2010 Mar 4.

Abstract

BACKGROUND AND PURPOSE

Previous studies have demonstrated that a common polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with an increased risk for stroke. However, this relation remains controversial. Our aim was to investigate the possible association between the C677T polymorphism in the MTHFR gene and idiopathic ischemic stroke in the young Mexican-Mestizo population.

METHODS

One hundred seventy-eight patients <45 years with idiopathic ischemic stroke and 183 controls were tested for the C677T polymorphism in the MTHFR gene. Causes of primary thrombophilia as well as classical risk factors for atherothrombotic disease were also evaluated.

RESULTS

There was a significant difference in the genotype distribution between patients and controls (p = 0.01), but the allele frequency was similar in both groups (p = 0.09). The univariate analysis identified the T allele as a risk factor for ischemic stroke (TT and CT carriers), as compared with homozygous for C allele (p = 0.01). Hypertension and smoking prevalences were significantly higher in the group of patients. Also the T allele was significantly associated with large-vessel ischemic stroke. The postoral methionine load homocysteine levels were higher in patients with ischemic stroke versus controls (p < 0.001). There was a low prevalence of primary thrombophilia markers.

CONCLUSIONS

The T allele from the C677T polymorphism of the MTHFR gene represents an independent risk factor for idiopathic ischemic stroke at young age in the Mexican-Mestizo population. Also, hypertension and smoking were independent risk factors in our study population. Primary thrombophilic risk factors were not associated with ischemic stroke in our population.

摘要

背景与目的

先前的研究表明,编码 5,10-亚甲基四氢叶酸还原酶(MTHFR)的基因中的一个常见多态性与中风风险增加有关。然而,这种关系仍存在争议。我们的目的是研究 MTHFR 基因中的 C677T 多态性与年轻的墨西哥-梅斯蒂索人群中的特发性缺血性中风之间可能存在的关联。

方法

我们对 178 名年龄<45 岁的特发性缺血性中风患者和 183 名对照者进行了 MTHFR 基因中的 C677T 多态性检测。还评估了原发性血栓形成倾向的原因以及动脉粥样硬化血栓形成疾病的经典危险因素。

结果

患者和对照组之间的基因型分布存在显著差异(p=0.01),但两组的等位基因频率相似(p=0.09)。单变量分析确定 T 等位基因是缺血性中风(TT 和 CT 携带者)的危险因素,与纯合子 C 等位基因相比(p=0.01)。患者组的高血压和吸烟患病率明显较高。T 等位基因也与大血管缺血性中风显著相关。与对照组相比,缺血性中风患者的 postoral 蛋氨酸负荷同型半胱氨酸水平更高(p<0.001)。原发性血栓形成倾向标志物的患病率较低。

结论

在墨西哥-梅斯蒂索人群中,MTHFR 基因的 C677T 多态性中的 T 等位基因是特发性年轻缺血性中风的独立危险因素。此外,高血压和吸烟是我们研究人群中的独立危险因素。在我们的人群中,原发性血栓形成风险因素与缺血性中风无关。

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