Kalita J, Srivastava R, Bansal V, Agarwal S, Misra U K
Department of Neurology, Sanjay Gandhi PGIMS, Lucknow, 226 014, India.
Neurol India. 2006 Sep;54(3):260-3. doi: 10.4103/0028-3886.27148.
In view of the prevailing controversy about the role of Methylenetetrahydrofolate reductase (MTHFR) C677T mutation in stroke and paucity of studies from India, this study has been undertaken to evaluate MTHFR C677T gene polymorphism in consecutive ischemic stroke patients and correlate these with folic acid, homocysteine (Hcy) and conventional risk factors.
Ischemic stroke patients prospectively evaluated in a tertiary care teaching hospital.
Computerized tomography proven ischemic stroke patients were prospectively evaluated including clinical, family history of stroke, dietary habits and addictions. Their fasting and postprandial blood sugar, lipid profile, vitamin B12, folic acid and MTHFR gene analysis were done.
MTHFR gene polymorphism was correlated with serum folic acid, Vitamin B12 and Hcy levels; family history of stroke in first-degree relatives; and dietary habits; employing Chi-square test.
There were 58 patients with ischemic stroke, whose mean age was 50 (4-79) years; among them, 10 were females. MTHFR gene polymorphism was present in 19 (32.8%) patients, 3 were homozygous and 16 were heterozygous. Both serum folate and B12 levels were low in 29 (50%) patients and Hcy in 48 (83%). Hypertension was present in 28 (48%) patients, diabetes in 12 (21%), hyperlipidemia in 52 (90%), smoking in 17 (29%), obesity in 1 (1.7%) and family history of stroke in first-degree relatives in 13 (22.4%). There was no significant relationship of MTHFR gene polymorphism with folic acid, B12, Hcy levels, dietary habits and number of risk factors. Vitamin B12 level was low in vegetarians (P<0.003). In 3 patients with MTHFR TT alleles, Hcy was elevated in all 3, low folic acid in 2 and family history of stroke in 1 patient.
MTHFR gene polymorphism was found in one-third of patients with ischemic stroke and was insignificantly associated with higher frequency of elevated Hcy.
鉴于目前关于亚甲基四氢叶酸还原酶（MTHFR）C677T突变在中风中的作用存在争议，且印度相关研究较少，本研究旨在评估连续性缺血性中风患者的MTHFR C677T基因多态性，并将其与叶酸、同型半胱氨酸（Hcy）及传统危险因素相关联。
在一家三级医疗教学医院对缺血性中风患者进行前瞻性评估。
对经计算机断层扫描证实的缺血性中风患者进行前瞻性评估，包括临床情况、中风家族史、饮食习惯和成瘾情况。检测他们的空腹及餐后血糖、血脂、维生素B12、叶酸并进行MTHFR基因分析。
采用卡方检验，将MTHFR基因多态性与血清叶酸、维生素B12和Hcy水平；一级亲属中风家族史；饮食习惯进行关联分析。
有58例缺血性中风患者，平均年龄50（4 - 79）岁；其中10例为女性。19例（32.8%）患者存在MTHFR基因多态性，3例为纯合子，16例为杂合子。29例（50%）患者血清叶酸和B12水平均低，48例（83%）患者Hcy水平高。28例（48%）患者有高血压，12例（21%）有糖尿病，52例（90%）有高脂血症，17例（29%）吸烟，1例（1.7%）肥胖，13例（22.4%）一级亲属有中风家族史。MTHFR基因多态性与叶酸、B12、Hcy水平、饮食习惯及危险因素数量无显著相关性。素食者维生素B12水平低（P<0.003）。在3例携带MTHFR TT等位基因的患者中，3例Hcy均升高，2例叶酸低，1例有中风家族史。
三分之一的缺血性中风患者存在MTHFR基因多态性，且与Hcy升高频率无显著关联。
