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C677T和A1298C亚甲基四氢叶酸还原酶(MTHFR)基因多态性作为缺血性卒中的相关因素。

C677T and A1298C methylenetetrahydropholate reductase (MTHFR) polymorphisms as factors involved in ischemic stroke.

作者信息

Arsene D, Găină Gisela, Bălescu Carmen, Ardeleanu Carmen

机构信息

Department of Histopathology and Immunohistochemistry, "Victor Babes" National Institute of Pathology, Bucharest, Romania.

出版信息

Rom J Morphol Embryol. 2011;52(4):1203-7.

Abstract

BACKGROUND

Ischemic stroke is a major health problem. Data regarding the possible association between ischemic stroke and the polymorphism of methylenetetrahydropholate reductase (MTHFR) C677T and A1298C are still conflictual.

AIM

The study tried to assess the association of the two MTHFR polymorphisms with ischemic stroke in a series of patients from a unique hospital center.

MATERIALS AND METHODS

The study comprised a total of 127 patients (67 with non-cardioembolic ischemic stroke diagnosed by computed tomography or magnetic resonance imaging) and 60 control cases. The method we used was reverse hybridization performed on peripheral blood for C677T and A1298C polymorphisms. In all patients a careful clinical examination, laboratory analyses of cholesterol, glucose amount and triglycerides, as well as their medical history were available.

RESULTS

The mean age of stroke patients was 68.73 years, and 55.2% were males. Gene analysis for C677T disclosed the presence of TT genotype in more control subjects than in stroke series (15% and 7.46% respectively). Also, the overall T allele (CT+TT cases) was present in 71.6% of control cases, as compared with 44.7% stroke patients. 1298C allele was almost equally distributed among the two series. No statistically significant correlations of the two genotypes with infarct localization and dimensions ant with other potential risk factors (hypertension, lipids, diabetes mellitus) were observed.

CONCLUSIONS

The two MTHFR polymorphisms, C677T and A1298C, seemed not related to the onset of ischemic stroke in our study. However, they could be rather involved in hemorrhagic stroke, as seen in our control patients. Further evaluation on larger series is mandatory since homocysteine activity (related to MTHFR activity) could be easily influenced by folate or cobalamin derivatives.

摘要

背景

缺血性中风是一个主要的健康问题。关于缺血性中风与亚甲基四氢叶酸还原酶(MTHFR)C677T和A1298C基因多态性之间可能存在的关联的数据仍存在冲突。

目的

本研究试图评估来自一家独特医院中心的一系列患者中这两种MTHFR基因多态性与缺血性中风的关联。

材料与方法

本研究共纳入127例患者(67例经计算机断层扫描或磁共振成像诊断为非心源性缺血性中风)和60例对照病例。我们使用的方法是对外周血进行C677T和A1298C基因多态性的反向杂交。所有患者均进行了仔细的临床检查、胆固醇、血糖量和甘油三酯的实验室分析以及病史采集。

结果

中风患者的平均年龄为68.73岁,男性占55.2%。C677T基因分析显示,对照受试者中TT基因型的存在比例高于中风组(分别为15%和7.46%)。此外,总体T等位基因(CT + TT病例)在71.6%的对照病例中出现,而中风患者中这一比例为44.7%。1298C等位基因在两个系列中分布几乎相同。未观察到这两种基因型与梗死部位、大小以及其他潜在危险因素(高血压、血脂、糖尿病)之间存在统计学显著相关性。

结论

在我们的研究中,两种MTHFR基因多态性C677T和A1298C似乎与缺血性中风的发病无关。然而,正如我们的对照患者所示,它们可能与出血性中风有关。由于同型半胱氨酸活性(与MTHFR活性相关)很容易受到叶酸或钴胺素衍生物的影响,因此必须对更大规模的系列进行进一步评估。

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