中青年脑梗死患者蛋氨酸合成酶还原酶基因多态性研究

Genetic polymorphism of methionine synthase reductase in young and middle-aged patients with cerebral infarction

目的 探讨蛋氨酸合成酶还原酶（MTRR）基因多态性与中青年脑梗死的关系. 方法 采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析技术检测105例中青年脑梗死患者（郑州大学第一附属医院神经内科自2008年5月至2009年10月收治）和116例对照者MTRRA66G的基因型,应用高效液相色谱荧光法检测2组对象血浆同型半胱氨酸（Hey）水平. 结果 脑梗死组和对照组MTRRA 66G基因型及等位基因频率比较差异无统计学意义（P＞0.05）.将脑梗死组按是否合并高血压、糖尿病和冠心病进行分层分析,发现脑梗死无合并症组GG基因型及G等位基因频率明显高于对照组（36.4％ vs 23.3％,62.1％ vs 52.2％）,但差异无统计学意义（P＞0.05）；脑梗死合并疾病组基因型及等位基因频率与对照组相比差异亦无统计学意义（P＞0.05）.脑梗死合并疾病组、脑梗死无合并症组及对照组GG基因型血浆Hcy水平均明显高于从基因型,差异均有统计学意义（P＜0.05）. 结论 MTRR A66G基因多态性与中青年脑梗死发病无关,但MTRR A66G基因纯合子突变可引起血浆Hcy水平明显升高.

Objective To explore the relationship between methionine synthase reductase （MTRR） gene polymorphism and cerebral infarction in young and middle-aged patients. Methods The genotype of MTRR A66G was analyzed by polymerase chain reaction-restrictive fragment length polymorphism （PCR-RFLP） and the plasma homocysteine （Hcy） level was measured by high performance liquid chromatography in 105 young and middle-aged patients with cerebral infarction and 116 age-matched healthy controls. Results The genotype distribution and allele frequencies of MTRR A 66G gene between the 2 groups had no statistical significance （P〉0.05）.Stratified analysis,performed according to whether cerebral infarction was complicated with hypertension,diabetes or coronary heart disease,indicated that the frequencies ofGG genotype and G allele in cerebral infarction patients without complications were obviously higher than those in controls （36.4% vs.23.3%,62.1% vs.52.2%）,but no statistical significance was noted between them （P〉0.05）.No statistical difference was observed between cerebral infarction patients with complications and controls （P〉0.05）. The mean plasma Hcy level in patients and controls with GG genotype was significantly higher than that in patients and controls with AA genotype （P〈0.05）. Conclusion No association between MTRR A 66G polymorphism and cerebral infarction is noted in young and middle-aged patients, while GG mutant homozygous ofMTRR A66G gene can significantly raise the plasma Hcy level.