出血性卒中与MTHFR C677T基因多态性的相关性研究

摘要 目的：探讨与分析出血性卒中与亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性的相关性。方法：2020年2月到2021年4月选择在本地区诊治的H型高血压患者220例作为研究对象，检测所有患者的MTHFR C677T基因多态性状况，检测血清同型半胱氨酸、叶酸、维生素B12含量。随访判定患者的出血性卒中状况并进行相关性分析。结果：随访调查1年，220例患者中出现出血性卒中20例（出血性卒中组），占比9.1 %。出血性卒中组的血清同型半胱氨酸含量明显高于非出血性卒中组，血清维生素B12、叶酸明显低于非出血性卒中组（P<0.05）。两组的MTHFR C677T基因型分布均符合Hardy-Weinberg遗传平衡，出血性卒中组的TT基因型、等位基因T占比分别为70.0 %、80.0 %，都显著高于非出血性卒中组的24.0 %、35.0 %（P<0.05）。Spearman相关系数分析显示H型高血压患者的血清同型半胱氨酸、叶酸、维生素B12含量、TT基因型、等位基因T都与出血性卒中存在相关性（P<0.05）。多元回归分析显示血清同型半胱氨酸、叶酸、维生素B12含量、TT基因型、等位基因T都为导致H型高血压患者出血性卒中发生的重要因素（P<0.05）。结论：H型高血压在随访过程中容易发生出血性卒中，也伴随有血清同型半胱氨酸、维生素B12、叶酸含量异常，MTHFR C677T的T基因型、等位基因T与出血性卒中存在相关性，也是导致出血性卒中发生的重要危险因素。

Correlation between Hemorrhagic Stroke and MTHFR C677T Gene Polymorphism

ABSTRACT Objective: To explore and analyze the correlation between hemorrhagic stroke and methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism. Methods: From February 2020 to April 2021, 220 cases of patients with H-type hypertension diagnosed and treated in this region were selected as the research subjects. The MTHFR C677T gene polymorphism status of all patients were detected, and the serum homocysteine, folic acid and vitamin B12 contents were detected. The patients'' hemorrhagic stroke status were determined during followed-up and correlation analysis were performed. Results: During the 1-year followed-up survey, there were 20 patients of the 220 patients were hemorrhagic stroke, accounting for 9.1 %. The serum homocysteine content in the hemorrhagic stroke group were higher than that in the non-hemorrhagic stroke group, and the serum vitamin B12 and folic acid were lower than those in the non-hemorrhagic stroke group(P<0.05). The distribution of MTHFR C677T genotypes in the two groups were in line with Hardy-Weinberg genetic balance. The proportion of TT genotype and allele T in the hemorrhagic stroke group were 70.0 % and 80.0 %, respectively, which were significantly higher than those in the non-hemorrhagic stroke group (24.0 % and 35.0 %)(P<0.05). Spearman correlation coefficient analysis showed that serum homocysteine, folic acid, vitamin B12 content, TT genotype, and allele T were associated with hemorrhagic stroke in H-type hypertension patients(P<0.05). Multiple regression analysis showed that serum homocysteine, folic acid, vitamin B12 content, TT genotype and allele T were all important factors leading to hemorrhagic stroke in H-type hypertension patients(P<0.05). Conclusion: H-type hypertension is prone to hemorrhagic stroke during follow-up, and is also accompanied by abnormal serum homocysteine, vitamin B12 and folic acid levels. The T genotype and allele T of MTHFR C677T are associated with hemorrhagic stroke. And they also were important risk factor for hemorrhagic stroke.