Chinese Medical Sciences Journal ›› 2021, Vol. 36 ›› Issue (2): 103-109.doi: 10.24920/003792

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  1. 1山东第一医科大学第一附属医院临床药学科,济南 250014
    2山东第一医科大学(山东省医学科学院)药学院,山东,泰安 271000
  • 收稿日期:2020-08-18 出版日期:2021-06-30
  • 通讯作者: 李妍

Methylenetetrahydrofolate Reductase Gene Polymorphism C677T is Associated with Increased Risk of Coronary Heart Disease in Chinese Type 2 Diabetic Patients

Kunrong Wu1,Shufang Zhang2,Ziwan Guan1,Xiaoli Li2,Rui Li1,Ying Yin2,Yan Li1,*()   

  1. 1Department of Clinical Pharmacy, The First Affiliated Hospital of Shandong First Medical University, Jinan 250014, China
    2School of Pharmaceutical Sciences, Shandong First Medical University (Shandong Academy of Medical Sciences) Tai’an 271000, Shandong, China
  • Received:2020-08-18 Published:2021-06-30
  • Contact: Yan Li


目的 长期血糖控制不佳引起的慢性心血管疾病是2型糖尿病患者主要的死亡原因。研究表明:亚甲基四氢叶酸还原酶基因(methylenetetrahydrofolate reductase gene,MTHFR)多态性可能会影响2型糖尿病患者冠心病的发生。本研究旨在评估MTHFR C677T和A1298C基因突变是否与2型糖尿病患者冠心病的发生风险相关。
方法 本研究一共纳入197例2型糖尿病受试者,其中95例受试者合并冠心病。采用双脱氧链终止法对MTHFR C677T和A1298C进行基因分型,并分析比较合并冠心病与不合并冠心病受试者等位基因频率的差异。
结果 合并冠心病2型糖尿病受试者的677T等位基因频率明显高于不合并冠心病的受试者(P=0.011)。单倍型频率在合并冠心病与不合并冠心病的2型糖尿病受试者之间无显著的差异。在同型半胱氨酸水平较低的糖尿病受试者中(≤15μmol/L),携带677T等位基因的受试者发生冠心病风险更高(P=0.006),而在同型半胱氨酸水平较高的糖尿病受试者中(>15μmol/L),MTHFR基因多态性对冠心病的发生风险无影响(P=0.491)。
结论 MTHFRC677T基因多态性与糖尿病患者发生冠心病的风险相关,对于具有正常同型半胱氨酸水平的中国糖尿病人群,其可作为预测冠心病风险的有效标志物。

关键词: 亚甲基四氢叶酸还原酶, 基因多态性, 2型糖尿病, 冠心病, 同型半胱氨酸


Objective Chronic cardiovascular diseases induced by long-term poor blood glucose control are the main cause of death in patients with type 2 diabetes mellitus (T2DM). Previous researches report that methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms might influence the occurrence of coronary heart disease (CHD) in T2DM patients. The purpose of this study was to evaluate whether MTHFR C677T and A1298C mutations are associated with the risk of CHD in T2DM patients.
Methods A total of 197 subjects with T2DM were studied, of which 95 patients with CHD. The genotypes of MTHFR C677T and A1298C were analyzed by using dideoxy chain-termination method, and compared between patients with CHD and those without CHD.
Results We found that the frequency of the 677T allele was significantly higher in T2DM patients with CHD than those without CHD (P=0.011). However, there was no significant difference in any of the examined haplotypes between T2DM patients with and without CHD. Furthermore, the 677T allele was associated with a higher risk of CHD development in diabetic patients with lower homocysteine (Hcy) levels (≤15 μmol/L) (P=0.006), while no effect of MTHFR gene polymorphism on the incidence of CHD was found in patients with higher Hcy levels (>15 μmol/L) (P=0.491).
Conclusion The MTHFR C677T gene polymorphism is associated with the risk of CHD of diabetic patients and could be used as an effective marker for CHD in Chinese diabetic populations with normal Hcy levels.

Key words: methylenetetrahydrofolate reductase, gene polymorphism, type 2 diabetes mellitus, coronary heart diseases, homocysteine

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