MTHFR、MTRR基因突变与冠心病患者冠状动脉狭窄程度的关联性  

Association of MTHFR and MTRR Gene Mutations with Coronary Artery Stenosis in Patients with Coronary Heart Disease

作　　者：何婷婷[1,2] 梁秀文 He Tingting;Liang Xiuwen(Suzhou Medical College of Suzhou University,Suzhou 215031,China;Cardiology Department of People's Hospital of Hulunbuir,Hulunbuir 021000,China;Inner Mongolia Hulunbuir Zhongmeng Hospital,Hulunbuir021000,China)

机构地区：[1]苏州大学苏州医学院,苏州215031 [2]内蒙古呼伦贝尔市人民医院心内科,呼伦贝尔021000 [3]内蒙古呼伦贝尔市中蒙医院,呼伦贝尔021000

出　　处：《华中科技大学学报（医学版）》2024年第3期362-367,共6页Acta Medicinae Universitatis Scientiae et Technologiae Huazhong

基　　金：内蒙古自治区自然科学基金资助项目(No.2019MS08182)。

摘　　要：目的 分析5,10-亚甲基四氢叶酸还原酶(5,10-methylene tetrahydrofolate reductase, MTHFR)和甲硫氨酸合成酶还原酶(methionine synthase reductase, MTRR)基因突变与冠心病患者冠状动脉狭窄程度的关联性。方法 选取2022年3月~2022年12月呼伦贝尔市人民医院心内科的135例冠心病患者作为研究对象,根据Gensini得分将患者分为对照组(<30分)、观察组(≥30分)。采用实时荧光定量聚合酶链式反应法检测MTHFR677、MTHFR1298、MTRR66基因多态性,比较两组受试者基因突变情况。探讨MTHFR677、MTHFR1298、MTRR66基因多态性与血清同型半胱氨酸(Hcy)水平、Gensini得分之间的相关性。结果 MTHFR基因677位点存在CC、CT、TT基因型,MTHFR基因1298位点存在AA、AC、CC基因型,MTRR基因66位点存在AA、AG、GG基因型。观察组MTHFR677位点的T等位基因频率(67.81%vs.54.03%)以及TT基因型频率(46.58%vs.25.81%)均高于对照组,MTHFR1298位点的C等位基因频率(11.64%vs.22.58%)以及CC基因型频率(0.00%vs.9.68%)均低于对照组(均P<0.05),两组患者的MTRR基因66位点等位基因、基因型频率差异无统计学意义(均P>0.05)。MTHFR677、MTHFR1298各基因型患者的血清Hcy水平差异有统计学意义,其中MTHFR677基因中TT基因型明显高于CC、CT基因型,而MTHFR1298基因中,AC+CC基因型明显明显低于AA基因型(均P<0.05),MTRR66基因各基因型血清Hcy水平比较差异无统计学意义(P>0.05)。多元线性回归分析显示,MTHFR677与Gensini得分呈正相关,MTHFR1298与Gensini得分呈负相关(均P<0.05);MTRR66与Gensini得分无明显相关(P>0.05)。结论 MTHFR基因C677 T、A1298 C位点突变与冠状动脉狭窄程度密切相关,可作为冠心病的潜在预测指标。Objective To analyze the association of 5,10-methylene tetrahydrofolate reductase(MTHFR)and methionine synthase reductase(MTRR)gene mutations with the severity of coronary artery stenosis in coronary heart disease pa-tients.Methods In all,135 coronary heart disease patients admitted to cardiology department of People's Hospital of Hulunbuir from June 2019 to June 2021 were selected as the study subjects,and the patients were divided into control group(Gensini score<30 points)and observation group(Gensini score≥30 points).The polymorphism of MTHFR677,MTHFR1298 and MTRR66 gene was detected by real-time fluorescence quantitative polymerase chain reaction,and the gene mutation was compared be-tween two groups.The correlation between gene polymorphism,serum Hcy level and Gensini score was analyzed.Results There were three genotypes(CC,CT and TT)for MTHFR gene 677,three genotypes(AA,AC and CC)for MTHFR gene 1298,and three genotypes(AA,AG and GG)for MTRR gene 66.The T allele frequency(67.81%us.54.03%)and TT genotype fre-quency(46.58%vs.25.81%)of MTHFR677 locus in the observation group were higher than those in the control group.The C allele frequency(11.64%us,22.58%)and CC genotype frequency(0.00%vs.9.68%)of MTHFR1298 locus in the observation group were lower than those in the control group(P<0.05).There was no significant difference in the allele frequency and gen-otype frequency of MTRR locus 66 between the two groups(P>0.05).There was a statistically significant difference in serum Hcy levels among patients with MTHFR677 and MTHFR1298 genotypes.Among them,TT genotype in MTHFR677 gene was significantly higher than CC and CT,while AC+CC genotype in MTHFR1298 gene was significantly lower than AA genotype(all P<0.05).There was no significant difference in serum Hcy levels among MTRR66 gene genotypes(P>0.05).Multiple linear regression analysis showed that MTHFR677 was positively correlated with Gensini score,MTHFR1298 was negatively correlated with Gensini score(P<0.05),and MTRR66 was not significantly correlated with G

关 键 词：5 10-亚甲基四氢叶酸还原酶 甲硫氨酸合成酶还原酶 基因突变 冠心病 冠状动脉狭窄 

分 类 号：R541.4[医药卫生—心血管疾病]