同型半胱氨酸水平与脑梗死患者MTHFR基因C677T多态性之间的相关性研究
投稿时间:2016-08-30  修订日期:2016-10-06  点此下载全文
引用本文:王国保,沈群弟,吕丹萍.同型半胱氨酸水平与脑梗死患者MTHFR基因C677T多态性之间的相关性研究[J].医学研究杂志,2017,46(5):154-158
DOI: 10.11969/j.issn.1673-548X.2017.05.038
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作者单位E-mail
王国保 312000 绍兴市第七人民医院检验科 wbg13515755689@163.com 
沈群弟 312000 绍兴市第七人民医院检验科  
吕丹萍 312000 绍兴市第七人民医院检验科  
中文摘要:目的 探讨研究同型半胱氨酸(homocysteine,Hcy)水平与脑梗死患者亚甲基四氢叶酸还原酶(MTHFR)基因C677T的多态性之间的相关性。方法 选择2012年2月~2015年8月期间在笔者医院住院就诊的450例脑梗死患者作为研究组,其中糖尿病患者181例,非糖尿病患者269例,另外选择285例笔者医院门诊部健康的体检人员作为对照组,分别采用焦磷酸测序的方法检测分析MTHFR基因C677T的多态性,并分析各基因型与Hcy水平之间的相关性。结果 脑梗死组与健康对照组的MTHFR基因型分布之间的差异具有统计学意义(P<0.05),脑梗死组T基因的频率明显比对照组高,差异有统计学意义(χ2=13.67,P=0.00)。脑梗死组患者的Hcy浓度明显高于健康对照组,差异有统计学意义(t=12.71,P=0.00)。脑梗死组患者各MTHFR基因型患者的Hcy水平之间比较,差异有统计学意义(F=17.68,P=0.00)。非糖尿病脑梗死患者的Hcy水平明显高于糖尿病脑梗死患者,差异有统计学意义(t=2.97,P=0.00),非糖尿病组TT型的Hcy浓度明显高于糖尿病组,CC型的Hcy浓度明显低于糖尿病组,差异均有统计学意义(t=5.67,2.18;P=0.00,0.03)。糖尿病性脑梗死患者和非糖尿病脑梗死患者中,MTHFR基因为TT型的Hcy水平明显高于CC型和CT型,差异均有统计学意义(P<0.05),而CC型和CT型的Hcy水平之间比较差异无统计学意义(P>0.05)。结论 脑梗死患者比健康人的MTHFR基因C677T的T等位基因频率高,且脑梗死患者的MTHFR基因C677T为TT基因型时血清中Hcy的水平更高,由此判断TT基因型可能是脑梗死发生的危险因素。
中文关键词:同型半胱氨酸  脑梗死  亚甲基四氢叶酸还原酶  基因多态性  糖尿病
 
Correlation between Homocysteine Levels and MTHFR C677T Gene Polymorphism of Cerebral inFarction
Abstract:Objective To study the correlation between homocysteine levels and MTHFR C677T gene polymorphism of cerebral infarction. Methods Four hundred and fifty patients with cerebral infarction in our hospital were selected as the study group from February 2012 to August 2015, including 181 diabetes patients and 269 non-diabetic patients. Also 285 cases of physical examination healthy people in the outpatient department were selected as the control group. The MTHFR C677T polymorphism and the correlation between genotype and Hcy levels were analyzed by pyrosequencing. Results The difference of distributions of MTHFR genotype between the study group and the control group was statistically significant (P<0.05). The frequency of the T gene in the study group was significantly higher than the control group, the difference was statistically significant (χ2=13.67, P=0.00). The Hcy concentrations of the study group was significantly higher than the control group, and the difference was statistically significant (t=12.71,P=0.00). The Hcy levels of different MTHFR genotype in the cerebral infarction patients were statistically significant (F=17.68,P=0.00). Hcy levels in non-diabetic patients with cerebral infarction was significantly higher than in diabetic patients with cerebral infarction, and the difference was statistically significant (t=2.97, P=0.00). Hcy concentrations of TT genotype of non-diabetic group was significantly higher than the TT genotype of the diabetic group, CC type Hcy concentration significantly lower than the diabetic group, and the differences were statistically significant (t =5.67, 2.18; P=0.00, 0.03). In cerebral infarction patients both with non-diabetic and diabetic, the Hcy levels of MTHFR gene TT genotype were significantly higher than those of CC and CT genotype, and the differences were statistically significant (P<0.05), and the differences of Hcy levels between the genotype of CT and CC was not statistically significant (P>0.05). Conclusion The T allele frequency of MTHFR C677T in the cerebral infarction patients is much higher than healthy people. MTHFR TT genotype is related to serum Hcy levels. Maybe it is a risk factor for cerebral infarction.
keywords:Homocysteine  Cerebral infarction  Methylenetetrahydrofolate reductase  Gene polymorphism  Diabetes
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