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亚甲基四氢叶酸还原酶()基因 C677T 变异与血清同型半胱氨酸水平及缺血性脑卒中严重程度的关系:中国西南地区的病例对照研究。

Association of the methylenetetrahydrofolate reductase () gene variant C677T with serum homocysteine levels and the severity of ischaemic stroke: a case-control study in the southwest of China.

机构信息

Department of Neurology, Suining Central Hospital, Suining, Sichuan Province, China.

出版信息

J Int Med Res. 2022 Feb;50(2):3000605221081632. doi: 10.1177/03000605221081632.

Abstract

OBJECTIVE

To determine whether the methylenetetrahydrofolate reductase () C677T gene polymorphism is linked to the risk of ischaemic stroke and circulating homocysteine (Hcy) levels in a Chinese population.

METHODS

This case-control study recruited angiogram-diagnosed patients with ischaemic stroke and healthy control subjects. The plasma Hcy concentrations were measured and the C677T gene polymorphism was genotyped. The National Institutes of Health Stroke Scale (NIHSS) was used to assess the severity of the ischaemic stroke.

RESULTS

This study recruited 198 patients with ischaemic stroke and 168 controls. The TT genotype conferred a higher risk for ischaemic stroke than the CC genotype (odds ratio of 3.563; 95% confidence interval [CI] 1.412, 4.350). The T allele was the predisposing allele for ischaemic stroke. Hcy had an area under the receiver operating characteristic (ROC) curve of 0.624 (95% CI 0.530, 0.758). The ROC for Hcy demonstrated its usefulness in predicting ischaemic stroke. Hcy levels were not associated with ischaemic stroke severity as measured by the NIHSS.

CONCLUSION

The C677T gene polymorphism affects circulating Hcy levels. The C677T gene polymorphism and hyperhomocysteinaemia may play important roles in predicting the risk of ischaemic stroke.

摘要

目的

确定亚甲基四氢叶酸还原酶(MTHFR)C677T 基因多态性是否与中国人群缺血性脑卒中风险及循环同型半胱氨酸(Hcy)水平相关。

方法

本病例对照研究纳入经血管造影诊断为缺血性脑卒中的患者和健康对照者。测定血浆 Hcy 浓度并对 C677T 基因多态性进行基因分型。采用国立卫生研究院卒中量表(NIHSS)评估缺血性卒中的严重程度。

结果

本研究共纳入 198 例缺血性脑卒中患者和 168 例对照者。TT 基因型与 CC 基因型相比,缺血性脑卒中风险更高(比值比为 3.563;95%置信区间 [CI] 1.412, 4.350)。T 等位基因为缺血性脑卒中的易感等位基因。Hcy 的受试者工作特征曲线(ROC)下面积为 0.624(95%CI 0.530, 0.758)。Hcy 的 ROC 表明其在预测缺血性脑卒中方面具有一定的作用。Hcy 水平与 NIHSS 测量的缺血性卒中严重程度无关。

结论

C677T 基因多态性影响循环 Hcy 水平。C677T 基因多态性和高同型半胱氨酸血症可能在预测缺血性脑卒中风险方面发挥重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5ef/8894968/a6da34250119/10.1177_03000605221081632-fig1.jpg

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