无症状性脑梗死患者Hcy水平及MTHFR基因C677T多态性的相关性研究

Association of Homocysteine Level and MTHFR Gene C677T Polymorphism with Asymptomatic Cerebral Infarction

摘要: 目的：探讨无症状性脑梗死(SBI)患者少见危险因素Hcy水平及MTHFR基因C677T多态性的相关性。方法：收集2014年1月至2020年2月就诊于克拉玛依市中心医院115例明确诊断为SBI患者及123例健康体检者，分为SBI组和非SBI组。使用统一标准化登记表记录既往病史，均完善MTHFR基因C677T多态性测定、Hcy水平测定(Hcy ≥ 15 umol为HHcy)、生化指标测定、头颅MRI、颈部血管超声等。结果：发现高血压、糖尿病、高脂血症、动脉粥样硬化斑块形成、吸烟、饮酒均是SBI组危险因素，差异具有统计学意义(P < 0.05)。MTHFR基因C677T多态性包括(CC、CT、TT)，在SBI组中分别占28.70%、39.1%、32.2%。非SBI组中分别占36.6%、48.8%、14.6%。其中TT基因型在SBI组中明显高于非SBI组，差异有统计学意义(P = 0.002)，Hcy水平在SBI组高于非SBI组，差异具有统计学意义(P = 0.005)。SBI相关危险因素多重Logistic回归分析发现TT基因型、HHcy (Hcy ≥ 15 umol/L)、高血压、吸烟差异有统计学意义(P < 0.05)。结论：SBI组TT基因型占比多于非SBI组，且差异具有统计学意义。SBI组Hcy水平高于非SBI组，差异有统计学意义。SBI组三种基因型中TT基因型人群的血浆Hcy水平高于非SBI组，差异有统计学意义。TT基因型、HHcy (Hcy ≥ 15 umol/L)、高血压、吸烟为SBI独立危险因素。

Abstract: Objective: To investigate the relationship between Hcy level and C677T polymorphism of MTHFR gene in patients with silent cerebral infarction (SBI). Methods: A total of 115 patients who were diagnosed as SBI patients and 123 healthy patients in Karamay Central Hospital from January 2014 to February 2020 were collected and divided into SBI group and non-SBI group. A unified standardized registration form was used to record the past medical history, and the MTHFR gene C677T polymorphism determination, Hcy level determination (Hcy ≥ 15 umol is HHcy), biochemical index determination, cranial MRI, cervical vascular ultrasound, etc. were perfected. Results: It was found that hypertension, diabetes, hyperlipidemia, atherosclerotic plaque formation, smoking, and alcohol consumption were all risk factors in the SBI group, and the difference was statistically significant (P < 0.05). The C677T polymorphisms of MTHFR gene include (CC, CT, TT), which accounted for 28.70%, 39.1%, and 32.2% in the SBI group, respectively. The non-SBI group accounted for 36.6%, 48.8%, and 14.6%. The TT genotype in the SBI group was significantly higher than that in the non-SBI group, and the difference was statistically significant (p = 0.002). The Hcy level in the SBI group was higher than that in the non-SBI group, and the difference was statistically significant (P = 0.005). Multiple Logistic regression analysis of SBI-related risk factors found that TT genotype, HHcy (Hcy ≥ 15 umol/L), hypertension, and smoking were statistically significant (P < 0.05). Conclusion: The proportion of TT genotype in SBI group is more than that in non-SBI group, and the difference is statistically significant. The Hcy level in SBI group was higher than that in non-SBI group, and the difference was statistically significant. The plasma Hcy level of TT genotype in SBI group was significantly higher than that of non-SBI group. TT genotype, HHcy (Hcy ≥ 15 umol/L), hypertension and smoking were independent risk factors of SBI.