Relationship between the MTHFR C677T Gene Polymorphism and the Collateral Circulation in Patients with Carotid Stenosis
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摘要:
目的 研究MTHFR C677T基因多态性与颈动脉狭窄及其侧支循环形成的关系。 方法 收集2018年10月至2021年3月昆明医科大学第二附属医院脑血管病科通过DSA诊断颈动脉中重度狭窄或慢性闭塞的患者65例，无明显颈动脉狭窄的对照组45例。所有患者完成一般情况评估。颈动脉中重度狭窄或慢性闭塞的65例患者DSA ASITN评分评估侧支循环分级。所有患者完成MTHFR C677T 基因多态性检测。 结果 颈动脉中重度狭窄及慢性闭塞的患者既往卒中发生率显著高于对照组。颈动脉中重度狭窄及慢性闭塞组的年龄、吸烟史、高血压、糖尿病史、总胆固醇、低密度胆固醇脂蛋白、同型半胱氨酸及MTHFR C677T基因CT/TT型占比差异有统计学意义（P < 0.05）。在中重度颈动脉狭窄或慢性颈动脉闭塞患者中，侧支循环开放良好者（3～4级）CC型所占比例高于TT/CT型，而侧支循环开放不良（1-2级）者TT/TC型较多，组间比较差异有显著性意义（ P < 0.05）。 结论 MTHFR 基因CT/TT型是颈动脉狭窄的危险因素。较CC型，CT/TT型颈动脉狭窄患者侧支循环开放更差。 -
关键词:
- 颈动脉狭窄 /
- MTHFR C677T 基因多态性 /
- 侧支循环
Abstract:Objective To study the relationship between the MTHFR C677T gene polymorphism and the collateral circulation in patients with carotid stenosis. Methods A total of 65 patients with moderate or severe carotid stenosis and chronic occlusion diagnosed by DSA and 45 controls without carotid stenosis from October 2018 to March 2021 in our hospital were included. All patients completed general assessment. 65 patients with moderate or severe carotid stenosis and chronic occlusion were evaluated the collateral circulation ASITN grading by DSA . All patients completed MTHFR C677T genetic polymorphism test. Results The incidence of stroke in patients with moderate or severe carotid stenosis and chronic occlusion was significantly higher than that in control group. There were significant differences in age, smoking history, hypertension, diabetes, total cholesterol, low density cholesterol lipoprotein, homocysteine and CT/TT type of MTHFR C677T gene between carotid artery stenosis or chronic occlusion group and control group （P < 0.05）. The patients with good collateral circulation （ASITN grade 3-4） had high proportion of CC type in moderate or severe carotid stenosis and chronic carotid occlusion group. And the TT/TC type were more in patients with poor collateral circulation opening （ASITN grade 1-2） . Conclusions CT/TT type of MTHFR genotype is a risk factor for carotid stenosis. The collateral circulation of patients with CT/TT type is worse comparing with CC type in carotid stenosis. -
Key words:
- Carotid stenosis /
- MTHFR C677T gene polymorphism /
- Collateral circulation
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图 1 男性患者，58岁，左侧颈内动脉慢性闭塞
侧支循环代偿评估：后交通动脉开放，大脑后动脉通过后交通动脉向大脑前动脉供血区供血；大脑前动脉软膜支代偿大脑中动脉供血。 ASITN/SIR 分级2级。
Figure 1. male，58 years old， chronic left carotid artery occlusion. The collateral circulation assessment.
图 2 男性，52岁，左侧颈总动脉慢性闭塞，侧支循环代偿评估
前交通动脉开放，右侧大脑前动脉通过前交通动脉代偿左侧大脑前动脉、大脑中动脉供血区，ASITN/SIR 4级。
Figure 2. male，52 years old， chronic left carotid artery occlusion. The collateral circulation assessment.
图 3 女性，64岁， 左侧颈内动脉重度狭窄，侧支循环代偿评估
前交通动脉开放，右侧大脑前动脉通过前交通动脉代偿左侧大脑前动脉供血，ASITN/SIR 1级。
Figure 3. female，64 years old， severe left carotid stenosis. The collateral circulation assessment.
表 1 颈动脉狭窄及慢性闭塞组与对照组一般情况比较[n（%）]
Table 1. Comparison of the general conditions of patients with carotid stenosis or chronic occlusion [n（%）]
项目 颈动脉中重度狭窄及慢性闭塞（n = 65） 对照组（n = 45） t/χ2 P 性别 男 43（65.2） 25（55.6） 1.265 0.260 女 22（33.8） 20（44.4） 年龄（岁， $\bar x \pm s $） 68.81 ± 12.65 64.10 ± 8.16 −2.039 0.0445* 吸烟史 36（55.4） 16（35.6） 4.194 0.040* 饮酒史 22（33.8） 10（22.2） 1.741 0.187 高血压 48（73.8） 19（42.2） 11.168 0.008* 糖尿病 31（47.7） 13（28.9） 7.351 0.007* 缺血性心脏病 11（16.9） 6（13.3） 0.262 0.608 既往卒中史 51（78.5） 16（35.5） 20.559 < 0.001* TG（mmol/L， $\bar x \pm s $） 2.35 ± 0.53 2.11 ± 0.74 −1.791 0.077 TC（mmol/L， $\bar x \pm s $） 6.89 ± 1.86 3.85 ± 1.19 −8.967 < 0.001* HDL（mmol/L， $\bar x \pm s $） 0.96 ± 0.20 1.16 ± 0.56 1.728 0.191 LDL（mmol/L， $\bar x \pm s $） 2.98 ± 0.77 2.01 ± 0.75 −6.007 < 0.001* Hcy（umol/L， $\bar x \pm s $） 26.97 ± 9.14 15.13 ± 6.96 −6.769 < 0.001* CC基因型 27（41.5） 31（68.9） 7.98 0.0047* CT/TT基因型 38（58.5） 14（31.1） *P< 0.05。 
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表 2 慢性颈动脉闭塞侧支循环分级与MTHFR C677T 基因多态性关系[n（%）]
Table 2. Relationship between the grade of collateral circulation and MTHFR C677T gene polymorphism in patients with chronic carotid artery occlusion [n，（%）]
项目 n 慢性颈动脉闭塞侧支循环分级（n = 20） 4 级（n = 5） 3级（n = 9） 2级（n = 5） 1级（n = 1） CC 11 4（36.37） 6（54.55） 1（9.10） 0 TT/TC 9 1（11.11） 1（11.11） 6（66.67） 1（11.11） χ2 9.8413 P 0.02* 组间比较，*P< 0.05。
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表 3 中重度颈动脉狭窄侧支循环分级与MTHFR C677T 基因多态性关系[n（%）]
Table 3. Relationship between t the grade of collateral circulation and MTHFR C677T gene polymorphism in patients with moderate and severe carotid stenosis [n（%）]
项目 中重度颈动脉狭窄侧支循环分级（n = 45） 4 级（n = 6） 3级（n = 11） 2级（n = 20） 1级（n = 8） CC
（n= 16）4（25） 7（43.75） 4（25） 1（6.25） TT/TC
（n= 29）2（6.89） 4（13.79） 16（55.12） 7（24.14） χ2 10.288 P 0.016* 组间比较，*P< 0.05。
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