MTHFRC677T基因多态性与不同CISS亚型脑梗死相关性研究
本文选题:急性脑梗死 + 同型半胱氨酸血症 ; 参考:《扬州大学》2014年硕士论文
【摘要】:目的:观察HHcy与急性脑梗死的相关性,分析MTHFR C677T基因对Hcy水平的影响,探讨MTHFR C677T基因多态性与急性脑梗死的相关性;同时对急性脑梗死患者进行CISS分型,探讨HHcy及MTHFR C677T与不同病因及发病机制急性脑梗死的相关性。 方法:1、连续性收集2013年1月至2014年3月就诊于苏北医院神经内科发病时间7d急性脑梗死患者,共567例。所有患者翌日清晨空腹抽取静脉血2m1采用酶联免疫分析法测定血浆Hcy水平,按照缺血性卒中CISS分型标准并结合影像学特点进行病因分型,比较各亚型的Hcy水平。 2、567例患者中在LA.A型及PAD型中随机抽取97例(ACI组),留取静脉血5ml,通过凝胶电泳方法检测MTHFR C677T基因多态性。年龄、性别等匹配的57例健康体检者作为健康对照组。比较ACI组及健康对照组的Hcy水平,比较各组内TT、CC、CT基因型的Hcy水平,按照CISS分型标准对ACI组的LAA型根据发病机制分为四种亚型,比较四个亚型及PAD型患者的Hey水平及TT基因及T基因检出率。 结果:1、与健康对照组比较,ACI组Hcy水平明显增高(P0.05);567例ACI患者依照CISS分型的病因分型的五种亚型的Hcy水平比较,LAA型Hcy水平较其他各型明显增高,其差异具有统计学意义(P0.05);PAD型Hcy水平较UE、CS型明显增高(P0.05),PAD型Hcy水平较OE型也明显增高,但其差异无统计学意义(P0.05);其余各组比较均无明显差异(P0.05)。 2、健康对照组与ACI组的T基因及TT基因检出率无明显差异(P0.05);各组内TT、CC、CT基因型的Hcy水平比较,TT基因型Hcy水平高于CC、CT基因型,但其差异无统计学意义(P0.05)。 3、将依发病机制分型的四种亚型与PAD型比较,A-A栓塞型、穿支型动脉口闭塞及混合型的Hcy水平较PAD型明显增高,且其差异具有统计学意义(P0.05)。LAA型中的四种亚型间Hcy水平无明显差异(P0.05)。五种亚型的T基因及TT基因检出率未见明显差异(P0.05)。 结论:1、高同半型胱氨酸血症是缺血性卒中的危险因素,且与卒中亚型中大动脉粥样硬化型关系密切,与穿支动脉病型可能也有相关性。 2、MTHFR C677T基因多态性的T基因突变对血同型半胱氨酸浓度有影响。 3、MTHFR C677T基因多态性与缺血性卒中无直接相关性。
[Abstract]:Objective: to observe the correlation between HHcy and acute cerebral infarction, to analyze the effect of MTHFR C677T gene on Hcy level, to explore the relationship between MTHFR C677T gene polymorphism and acute cerebral infarction, and to classify the patients with acute cerebral infarction by CISS.To investigate the correlation between HHcy and MTHFR C677T and acute cerebral infarction with different etiology and pathogenesis.Methods from January 2013 to March 2014, 567 patients with acute cerebral infarction were admitted to the Department of Neurology, Subei Hospital from January 2013 to March 2014.The plasma Hcy levels were measured by enzyme linked immunosorbent assay (Elisa) in all patients with venous blood 2m1 collected on an empty stomach the next morning. According to the criteria of CISS classification and imaging features of ischemic stroke, the Hcy levels of each subtype were compared.Among 2567 patients, 97 patients with LA.A and PAD were randomly selected, and 5 ml of venous blood was collected. The polymorphism of MTHFR C677T gene was detected by gel electrophoresis.Age, sex, and other matched 57 healthy people as a healthy control group.The levels of Hcy in ACI group and healthy control group were compared, and the Hcy level of TTC CCT genotype in each group was compared. According to CISS classification criteria, LAA type in ACI group was divided into four subtypes according to the pathogenesis.The levels of Hey and the detection rate of TT gene and T gene in four subtypes and PAD patients were compared.Results compared with the healthy control group, the level of Hcy in the control group was significantly higher than that in the control group. The Hcy level of the five subtypes of ACI according to the etiological classification of CISS was significantly higher than that of the other types.The level of P0.05pad type Hcy was significantly higher than that of UECS-type and the level of P0.05pad type Hcy was significantly higher than that of OE type, but the difference was not statistically significant (P0.05), and there was no significant difference in other groups.2. There was no significant difference in the detection rate of T gene and TT gene between healthy control group and ACI group (P 0.05). The Hcy level of TT genotype was higher than that of CCT CT genotype in each group, but the difference was not statistically significant (P 0.05).3Compared the four subtypes according to pathogenesis with PAD type, the Hcy level of perforating artery occlusion and mixed type was significantly higher than that of PAD type, and there was no significant difference in Hcy level among the four subtypes of P0.05. LAA type.There was no significant difference in the detection rate of T gene and TT gene among the five subtypes (P 0.05).Conclusion hyperhomocysteinemia is a risk factor for ischemic stroke, and is closely related to the type of atherosclerosis in the middle and large arteries of the subtype of stroke, and may also be related to the type of perforating artery disease.2the mutation of T gene in MTHFR C677T gene had an effect on serum homocysteine concentration.3There was no direct correlation between MTHFR C677T gene polymorphism and ischemic stroke.
【学位授予单位】:扬州大学
【学位级别】:硕士
【学位授予年份】:2014
【分类号】:R743.3
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