文章摘要
张蕾,冯晓俊,秦立婷,等.脑卒中患者MTHFR基因多态性与H型高血压的相关性[J].中国临床保健杂志,2021,24(4):502-506.
脑卒中患者MTHFR基因多态性与H型高血压的相关性
Association between MTHFR gene polymorphism and H-type hypertension in stroke patients
投稿时间:2021-05-12  
DOI:10.3969/J.issn.1672-6790.2021.04.015
中文关键词: 卒中  高血压  高半胱氨酸  亚甲基四氢叶酸还原酶  多态现象,遗传  基因检测
英文关键词: Stroke  Hypertension  Homocysteine  Methylenetetrahydrofolate reductase  Polymorphism,genetic  Genetic testing
基金项目:国家自然科学基金青年科学基金项目(82003740);安徽省重点研究与开发计划项目(201904a07020092);安徽省心血管病研究所开放课题项目(KF2018015);安徽省高等学校省级质量工程教学研究项目(2019jyxm0972)
作者单位E-mail
张蕾 中国科学技术大学附属第一医院安徽省立医院药剂科,安徽省心血管病研究所,合肥 230001 76zhanglei@163.com 
冯晓俊 中国科学技术大学附属第一医院安徽省立医院药剂科,安徽省心血管病研究所,合肥 230001  
秦立婷 中国科学技术大学附属第一医院安徽省立医院药剂科,安徽省心血管病研究所,合肥 230001  
陈昭琳 中国科学技术大学附属第一医院安徽省立医院药剂科,安徽省心血管病研究所,合肥 230001  
唐丽琴 中国科学技术大学附属第一医院安徽省立医院药剂科,安徽省心血管病研究所,合肥 230001  
沈爱宗 中国科学技术大学附属第一医院安徽省立医院药剂科,安徽省心血管病研究所,合肥 230001 anhuiaizongs@163.com 
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中文摘要:
      目的 研究脑卒中患者中亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性和基因分布频率,探讨MTHFR基因多态性与H型高血压及血清同型半胱氨酸(Hcy)的相关性。方法 选取2018年7月至2018年12月在中国科学技术大学附属第一医院神经内科住院的122例患有高血压的脑卒中住院患者。查询病历系统采集患者基线及生化资料,采用PCR-芯片法对MTHFR C677T基因多态性检测,按照基因型将患者分为三组(CC、CT和TT)。结果 研究人群中有72%为H型高血压,男性患者多于女性,差异有统计学意义(P<0.05);男性患者MTHFR C677T突变位点T等位基因频率为56.04%高于女性患者40.32% T等位基因频率,差异有统计学意义(P<0.05);TT基因型患者血清Hcy水平高于CT和CC基因型患者,与之相反,TT基因型患者叶酸和维生素B12水平低于CT和CC基因型患者,差异有统计学意义(P<0.05);TT组存在高同型半胱氨酸患者频率高于CT组和CC组,差异有统计学意义(P<0.05)。结论 MTHFR C677T基因多态性是H型高血压的重要遗传风险因素,对脑卒中高血压患者MTHFR C677T基因型检测有助于临床精准诊疗。
英文摘要:
      Objective To study the genetic polymorphism and frequency of Methylene tetrahydrofolate reductase (MTHFR) C677T in stroke patients,and to explore the relationship between MTHFR gene polymorphism and H-type hypertension and serum homocysteine (Hcy).Methods One hundred and twenty two patients with hypertension from July 2018 to December 2018 in the Department of Neurology of the First Affiliated Hospital of University of Science and Technology of China were selected.The baseline and biochemical data of patients were collected by medical record system.MTHFR C677T gene polymorphism was detected by DNA microarray technology,and the patients were divided into three groups (CC,CT and TT) according to their genotypes.Results The proportion of H-type hypertension in stroke study population was 72%,which was higher in males than in females (P<0.05),the T allele frequency of MTHFR C677T mutation site in males was 56.04%,which was higher than that in females (P<0.05),the serum Hcy level in TT genotype patients was higher than that in CT and CC genotype patients (P<0.05).The levels of folic acid and vitamin B12 in genotype patients were lower than those in CT and CC genotype patients (P<0.05),and the frequency of Hyperhomocysteine in TT group was higher than that in CT group and CC group (P<0.05).Conclusions MTHFR C677T gene polymorphism is an important genetic risk factor for H-type hypertension.The detection of MTHFR C677T genotype in stroke patients with hypertension is helpful for clinical accurate diagnosis and treatment.
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