MTHFR C677T基因多态性与高血压病患者颈动脉斑块及内膜厚度的关联性研究  

MTHFR C677T gene polymorphism and carotidartery plaque formation and IMT in hypertensive patients

作　　者：鲁大胜 章宏祥 吴小雷[1,2] 汪娟 贺常萍 杨凌飞 LU Dasheng;ZHANG Hongxiang;WU Xiaolei;WANG Juan;HE Changping;YANG Lingfei(Department of Cardiology,The Second Affiliated Hospital of Wannan Medical College,Wuhu 241000,China)

机构地区：[1]皖南医学院第二附属医院心内科,安徽芜湖241000 [2]皖南医学院血管性疾病研究中心,安徽芜湖241000

出　　处：《皖南医学院学报》2020年第4期319-321,共3页Journal of Wannan Medical College

基　　金：国家自然科学基金青年项目(81800445)。

摘　　要：目的:探讨亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性与高血压病患者颈动脉硬化的关系。方法:选取2019年12月~2020年2月就诊的高血压病患者86例,进行MTHFR C677T基因多态性检测及颈动脉超声检查,按照颈动脉超声检查结果分为斑块组(56例)及对照组(30例),按照基因型分为基因突变组(CT/TT)及野生纯合子组(CC)。结果:MTHFR C677T CC、CT、TT基因型在对照组的分布频率分别为50.0%、40.0%及10.0%;在斑块组的分布频率为19.6%、64.3%及16.1%,差异有统计学意义(P<0.05)。多因素分析显示突变基因型是发生斑块的独立危险因素(OR:5.171,95%CI:1.717~15.572,P=0.003)。基因突变组比野生纯合子组颈动脉内-中膜厚度(IMT)增厚[(0.84±0.24)mm vs.(0.71±0.16)mm,P<0.05],且IMT与MTHFR C667T的基因型呈正相关(rs=0.266,P=0.013)。结论:高血压病患者的MTHFR C677T基因突变与颈动脉粥样硬化斑块形成及颈动脉IMT增加相关。MTHFR C677T基因突变是颈动脉斑块形成的独立危险因素之一。Objective:To investigate the relationship between methylenetetrahydrofolate reductase(MTHFR)C677T gene polymorphism and carotid atherosclerosis in patients with hypertension.Methods:Eighty-six hypertensive patients undergoing diagnosis in our department were enrolled from December 2019 to February 2020,and subjected to MTHFR C677T genotyping and carotid artery ultrasound examination.Then the patients were allocated to plaque group(n=56)and control group(n=30)by the ultrasonic findings.CT/TT genotypes were defined as gene mutation group(GM)and CC as wild type(WT)by MTHFR C677T genotyping.Results:Genotype CC,CT and TT were 50.0%,40.0%and 10.0%;and 19.6%,64.3%and 16.1%,respectively for the control group and plaque group(all P<0.05).Multivariate analysis showed that gene mutation was an independent risk factor for carotid artery plaque(OR=5.171,95%CI:1.717-15.572,P=0.003).Moreover,the carotid intima media thickness(IMT)was significantly increased in GM than that in WT group[(0.84±0.24)mm vs.(0.71±0.16)mm,P=0.012],and IMT was positively related to MTHFR C677T genotyping(r s=0.266,P=0.013).Conclusion:In hypertensive patients,the gene mutation of MTHFR C677T is significantly associated with the increased risk of carotid artery plaque and elevated IMT.

关 键 词：高血压病 亚甲基四氢叶酸还原酶 C677T基因多态性 颈动脉硬化斑块 

分 类 号：R544.1[医药卫生—心血管疾病] R743.33[医药卫生—内科学]