Department of Cardiology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China (mainland).
Department of Neurosurgery, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China (mainland).
Med Sci Monit. 2020 Jul 17;26:e920320. doi: 10.12659/MSM.920320.
BACKGROUND The C677T polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism has been associated with hypertension and coronary heart disease, but its relationship with carotid artery remains unknown. This study aimed to investigate the association between the C677T polymorphism of the MTHFR gene in patients with confirmed carotid artery atherosclerosis. MATERIAL AND METHODS This retrospective study included 210 patients with carotid artery atherosclerosis (the patient group) and 210 controls (the control group). Color Doppler ultrasound was used to identify carotid artery intimo-medial thickness and atherosclerotic plaques. Sanger sequencing using the polymerase chain reaction (PCR) was used to detect the MTHFR C677T gene polymorphism. Systolic blood pressure (SBP), diastolic blood pressure (DBP), fasting plasma glucose (FPG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglyceride (TG), glycosylated hemoglobin (HbA1c), and other laboratory indicators were measured. RESULTS SBP, DBP, FPG, TC, LDL-C, HbA1c, and intimo-medial thickness were significantly increased in the patient group compared with the control group, and HDL-C was significantly lower. The allele frequencies of the C667T locus of MTHFR gene were significantly different between the two groups (P<0.05), and the TT genotype and the T allele frequencies in the patient group were higher than in the control group. Logistic regression analysis showed that SBP, TC, LDL-C, and the C667T MTHFR gene polymorphism were risk factors for carotid artery atherosclerosis. CONCLUSIONS The C677T polymorphism of the MTHFR gene was expressed in patients with carotid artery atherosclerosis.
5,10-亚甲基四氢叶酸还原酶（MTHFR）基因 C677T 多态性与高血压和冠心病有关，但与颈动脉的关系尚不清楚。本研究旨在探讨已确诊颈动脉粥样硬化患者 MTHFR 基因 C677T 多态性与颈动脉的关系。
本回顾性研究纳入了 210 例颈动脉粥样硬化患者（患者组）和 210 例对照者（对照组）。采用彩色多普勒超声检测颈动脉内-中膜厚度和粥样硬化斑块。采用聚合酶链反应（PCR）结合 Sanger 测序检测 MTHFR C677T 基因多态性。测量收缩压（SBP）、舒张压（DBP）、空腹血糖（FPG）、总胆固醇（TC）、低密度脂蛋白胆固醇（LDL-C）、高密度脂蛋白胆固醇（HDL-C）、甘油三酯（TG）、糖化血红蛋白（HbA1c）等实验室指标。
与对照组相比，患者组 SBP、DBP、FPG、TC、LDL-C、HbA1c 明显升高，HDL-C 明显降低。MTHFR 基因 C667T 位点的等位基因频率在两组间差异有统计学意义（P<0.05），且患者组 TT 基因型和 T 等位基因频率高于对照组。Logistic 回归分析显示，SBP、TC、LDL-C 和 C667T MTHFR 基因多态性是颈动脉粥样硬化的危险因素。
MTHFR 基因 C677T 多态性在颈动脉粥样硬化患者中表达。
