高血压与非高血压脑梗死患者MTHFR基因C667T多态性与同型半胱氨酸水平的相关性  

Relationship between MTHFR gene C677T polymorphism and homocysteine level in cerebral infarction patients with or without hypertension

作　　者：吴子瑜 杨津[1] 郭太林[1] 陈艳[1] 阮景明[1] WU Zi-yu;YANG Jin;GUO Tai-lin;CHEN Yan;RUAN Jing-ming(Department of Geriatrics, Fujian Provincial Hospital, Fuzhou, Fujian 350000, Chin)

机构地区：[1]福建省立医院老年科福建省立医院干部特诊一科,福建福州350000

出　　处：《中国临床研究》2018年第4期477-480,共4页Chinese Journal of Clinical Research

摘　　要：目的探讨脑梗死患者亚甲基四氢叶酸还原酶(MTHFR)基因C667T多态性及其与同型半胱氨酸(Hcy)水平的相关性,并进一步比较高血压与非高血压脑梗死患者MTHFR基因C667T多态性特点和Hcy水平。方法选取2016年1月至12月福建省立医院脑梗死患者306例(高血压性脑梗死237例,非高血压性脑梗死69例)及非脑梗死306例(对照组)进行对照研究。采用焦磷酸测序技术检验MTHFR基因C667T多态性,采用循环酶法检测血清Hcy水平,比较不同组别MTHFR基因型分布及不同基因型患者的Hcy水平。结果脑梗死患者MTHFR基因具有C667T多态性。在306例脑梗死患者中基因型分布:TT型69例(22.5%),CT型138例(45.1%),CC型99例(32.4%);脑梗死患者等位基因T频率(45.1%)明显高于非脑梗死患者等位基因T频率(32.4%,P<0.05)。不同基因型脑梗死患者Hcy水平:TT型的Hcy水平[(26.2±8.6)μmol/L]分别高于CT型[(12.9±4.4)μmol/L]、CC型[(11.1±4.5)μmol/L](P均<0.01)。脑梗死患者中,高血压患者TT型频率(44.3%)与非高血压患者TT型频率(47.8%)差异无统计学意义(P>0.05),但TT型高血压患者Hcy浓度[(21.8±9.1)μmol/L]显著高于非高血压患者[(15.9±6.8)μmol/L](P<0.05)。结论脑梗死患者MTHFR基因具有C667T多态性,其中TT型纯合突变与血清高Hcy水平有关,可能是脑梗死发生的危险因素;TT基因型高血压性脑梗死患者相对于该基因型非高血压性脑梗死患者具有更高的Hcy水平。Objective To investigate the relationship between methylenetetrahydrofolate reductase（MTHFR） gene C677 T polymorphism and serum homocysteine（Hcy） level in cerebral infarction patients,and further analyze the feature of MTHFR gene C677 T polymorphism and Hcy level in cerebral infarction patients with or without hypertension. Methods A total of 306 patients with cerebral infarction including 237 cases of hypertensive cerebral infarction and 69 cases of nonhypertensive cerebral infarction as well as 306 cases of non-cerebral infarction（control group） who were admitted in Fujian Provincial Hospital between January and December 2016 were selected for clinical control study. Pyrosequencing technology was used to detect MTHFR gene C677 T polymorphism. Enzymatic cycling assay was used to detect serum Hcy level.MTHFR genotype distribution and Hcy level in patients with different genotype were compared in different groups. Results MTHFR gene had C667 T polymorphism in cerebral infarction patients. Genotype distributions of 306 cases of cerebral infarction were TT type [69 cases（22. 5%） ],CT type [138 cases（45. 1%） ],CC type [99 cases（32. 4%） ]. The allele T frequency in cerebral infarction patients was significantly higher than that in non-cerebral infarction patients（45. 1% vs32. 4%,P〈0. 05）. Hcy level of TT type[26. 2 ± 8. 6） μmol/L] was significantly higher than that of CT type [12. 9 ±4. 4） μmol/L,P〈0. 01] and of CC type [（11. 1 ± 4. 5） μmol/L,P〈0. 01]respectively. There was no significant difference in TT type frequency between cerebral infarction patients and non-cerebral infarction patients（44. 3% vs 47. 8%,P〈0. 05）,but Hcy concentration in TT type hypertension cerebral infarction patients was significantly higher than that in TT type non-hypertension cerebral infarction patients[（21. 8 ± 9. 1） μmol/L vs 15. 9 ± 6. 8） μmol/L,P〈0. 05].Conclusions MTHFR gene has C667 T polymorphism in cerebral infarction patients. MTHFR gene TT type homozygous mutation

关 键 词：脑梗死 亚甲基四氢叶酸还原酶 基因多态性 同型半胱氨酸 高血压 

分 类 号：R743.33[医药卫生—神经病学与精神病学]