Panigrahi Inusha, Chatterjee Tathagata, Biswas Arijit, Behari Madhuri, Choudhry Prakash Ved, Saxena Renu
Department of Hematology, All India Institute of Medical Sciences, Ansari Nagar, Delhi - 110 029, India.
Neurol India. 2006 Mar;54(1):48-50; discussion 51-2. doi: 10.4103/0028-3886.24703.
Homozygosity for MTHFR C677T polymorphism can lead to significantly high homocysteine levels and hyperhomocysteinemia is an important risk factor for thrombotic events.
The aim was to determine role of MTHFR C677T polymorphism in North Indians with ischemic stroke.
In a prospective study, the subjects of stroke were recruited from the neurology clinic of the hospital. Controls were healthy individuals from the Hematology clinic without any history of stroke.
Plasma homocysteine levels were measured by enzyme immuno assay method after 3 months of acute episode. Serum folate and Vitamin B12 levels were estimated by competitive inhibition radioassay. MTHFR polymorphism was detected by PCR-RFLP using Hinf I enzyme.
The analysis of significance of results was done using SPSS software package. A p-value.
Thirty-two acute ischemic stroke patients (aged 1-44 years) were studied. Fourteen (43.8%) had recurrent stroke. Nine (28%) had multiple infarcts. Four of 32 patients (12.5%) had high homocysteine levels. Three out of these 4 hyper-homocysteinemia patients were homozygous ( TT ) for MTHFR polymorphism (2 with recurrent stroke). Two of three homozygous cases with TT genotype had low serum folate. Five of 32 stroke cases (18.8%) were heterozygous ( CT ) genotype.
Primary hyper-homocysteinemia appears to be an important risk factor for ischemic stroke in North Indians, most due to MTHFR C677T homozygosity. Folate levels may modify the presentation of the MTHFR TT genotype.
亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性的纯合子可导致同型半胱氨酸水平显著升高，而高同型半胱氨酸血症是血栓形成事件的重要危险因素。
本研究旨在确定MTHFR C677T基因多态性在患有缺血性中风的北印度人中的作用。
在一项前瞻性研究中，中风患者从医院的神经科门诊招募。对照组为来自血液科门诊的健康个体，无任何中风病史。
急性发作3个月后，采用酶免疫分析法测定血浆同型半胱氨酸水平。采用竞争抑制放射分析法测定血清叶酸和维生素B12水平。使用Hinf I酶通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测MTHFR基因多态性。
使用SPSS软件包对结果的显著性进行分析。p值……
对32例急性缺血性中风患者（年龄1 - 44岁）进行了研究。14例（43.8%）有复发性中风。9例（28%）有多处梗死。32例患者中有4例（12.5%）同型半胱氨酸水平升高。这4例高同型半胱氨酸血症患者中有3例MTHFR基因多态性为纯合子（TT）（2例有复发性中风）。3例TT基因型纯合子病例中有2例血清叶酸水平低。32例中风病例中有5例（18.8%）为杂合子（CT）基因型。
原发性高同型半胱氨酸血症似乎是北印度人缺血性中风的重要危险因素，多数归因于MTHFR C677T纯合子。叶酸水平可能会改变MTHFR TT基因型的表现。
