Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
J Neurol Sci. 2011 May 15;304(1-2):67-70. doi: 10.1016/j.jns.2011.02.010. Epub 2011 Mar 15.
The present study was aimed to evaluate MTHFR C677T gene polymorphism in patients with ischemic stroke (IS) and intracerebral hemorrhage (ICH) and compare it with controls.
207 patient with IS and 215 with CT/MRI proven ICH were included and compared with 188 healthy controls. The stroke risk factors, location of IS, its vascular territory and in ICH the location of hematoma were noted. MTHFR C677T polymorphism was studied by polymerase chain reaction.
Hypertension was present in 65.9% of ICH and 48.8% of IS. Other stroke risk factors were not significantly different. The frequency of the CC genotype in controls was 68.6%. CT in 28.7% and TT in 2.7%, whereas it was 75.3%, 20.5% and 4.2% in ICH and 66.2%, 39.4% and 2.4% respectively in IS. The frequency of these genotypes as well as allele frequency was not different in IS, ICH as compared to controls, however variant allele was more frequent in IS compared to ICH. Homocysteine level was higher in IS patients with variant genotype
MTHFR C677T gene polymorphism was neither associated with hemorrhagic nor ischemic stroke. However raised homocysteine levels were found to be associated with MTHFRC677-TT genotype in IS patients.
本研究旨在评估 MTHFR C677T 基因多态性在缺血性脑卒中（IS）和脑出血（ICH）患者中的作用，并与对照组进行比较。
纳入 207 例 IS 患者和 215 例 CT/MRI 证实的 ICH 患者，并与 188 例健康对照组进行比较。记录脑卒中危险因素、IS 病变部位、IS 的血管分布区域和 ICH 血肿部位。采用聚合酶链反应检测 MTHFR C677T 多态性。
ICH 患者中高血压的发生率为 65.9%，IS 患者中高血压的发生率为 48.8%。其他脑卒中危险因素无显著差异。对照组 CC 基因型频率为 68.6%，CT 基因型频率为 28.7%，TT 基因型频率为 2.7%；ICH 患者中 CC 基因型频率为 75.3%，CT 基因型频率为 20.5%，TT 基因型频率为 4.2%；IS 患者中 CC 基因型频率为 66.2%，CT 基因型频率为 39.4%，TT 基因型频率为 2.4%。IS、ICH 患者与对照组相比，这些基因型及其等位基因频率无显著差异，但 IS 患者中变异等位基因较 ICH 患者更为常见。携带变异基因型的 IS 患者同型半胱氨酸水平升高。
MTHFR C677T 基因多态性与出血性或缺血性脑卒中均无相关性。然而，在 IS 患者中，升高的同型半胱氨酸水平与 MTHFR C677-TT 基因型相关。
