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亚甲基四氢叶酸还原酶(MTHFR)基因 C677T 变体在有或无先兆偏头痛患者中的频率 - 初步报告。

Frequency of the C677T variant of the methylenetetrahydrofolate reductase (MTHFR) gene in patients with migraine with or without aura - a preliminary report.

机构信息

Oddział Neurologii SPSK nr 7, Slaski Uniwersytet Medyczny, ul. Ziołowa 45-47, 40-635 Katowice.

出版信息

Neurol Neurochir Pol. 2012 Sep-Oct;46(5):443-9. doi: 10.5114/ninp.2012.31354.

Abstract

BACKGROUND AND PURPOSE

The aim of our study was to evaluate the frequency of the C677T variant in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with migraine with or without aura and to find an association between this variant and vascular lesions in magnetic resonance imaging of the head, presence of patent foramen ovale (PFO) and increased level of homocysteine.

MATERIAL AND METHODS

Ninety-one patients with migraine, aged 19-57, were investigated in this study. The MTHFR C677T variant was genotyped in this group and levels of homocysteine, folic acid and vitamin B12 were measured. Transcranial Doppler sonography with test for PFO detection by injection of air contrast during the Valsalva manoeuvre was performed in each patient.

RESULTS

Frequency of the C677T variant in the MTHFR gene was similar in patients and controls. Hyperhomocysteinaemia was significantly more frequent in migraine patients with the C677T variant. The prevalence of PFO was significantly higher in migraine patients with aura and the homozygous variant of the MTHFR gene.

CONCLUSIONS

Frequency of the C677T variant in the MTHFR gene was similar in patients and controls. Significantly more frequent prevalence of PFO in migraine patients with aura (with homozygous recessive genotype of MTHFR probably suggests their common genetic basis. Hyperhomocysteinaemia was significantly more frequent in migraine patients with the C677T variant, which could be an additional risk factor of this disease.

摘要

背景与目的

本研究旨在评估偏头痛伴或不伴先兆患者亚甲基四氢叶酸还原酶(MTHFR)基因 C677T 变异的频率,并寻找该变异与头部磁共振血管病变、卵圆孔未闭(PFO)的存在以及同型半胱氨酸水平升高之间的关联。

材料与方法

本研究共纳入 91 例年龄在 19-57 岁的偏头痛患者。对该组患者进行 MTHFR C677T 变异基因分型,并测量同型半胱氨酸、叶酸和维生素 B12 水平。对每位患者进行经颅多普勒超声检查,并通过瓦氏动作期间注射空气对比剂检测 PFO。

结果

MTHFR 基因 C677T 变异在患者和对照组中的频率相似。伴有 C677T 变异的偏头痛患者高同型半胱氨酸血症更为常见。伴先兆的偏头痛患者和 MTHFR 基因纯合变异患者的 PFO 发生率明显更高。

结论

MTHFR 基因 C677T 变异在患者和对照组中的频率相似。伴先兆的偏头痛患者 PFO 发生率明显更高(可能提示它们具有共同的遗传基础。伴有 C677T 变异的偏头痛患者高同型半胱氨酸血症更为常见,这可能是该疾病的另一个危险因素。

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