Chinese Medical Sciences Journal ›› 2020, Vol. 35 ›› Issue (1): 71-84.doi: 10.24920/003535

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  1. 首都医科大学附属北京同仁医院 北京同仁眼科中心 北京市眼科学与视觉科学重点实验室,北京 100730
  • 收稿日期:2019-06-02 出版日期:2020-03-31 发布日期:2020-04-16
  • 通讯作者: 刘宁朴

Methylenetrahydrofolate Reductase Gene C677T Polymorphism and Diabetic Retinopathy: a Meta-Analysis

Shen Chang,Zhao Meng,Li Yunyun,Liu Ningpu()   

  1. Beijing Tongren Eye Center & Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China
  • Received:2019-06-02 Published:2020-03-31 Online:2020-04-16
  • Contact: Liu Ningpu


目的 探讨亚甲基四氢叶酸还原酶基因C677T(MTHFR-C677T)多态性与糖尿病视网膜病变(DR)的关系。
方法 本研究共纳入23项研究共6971名受试者,其中DR患者2707例,对照4264名。应用随机效应模型估计MTHFR基因C677T多态性对DR风险的总体效应和分层效应,并对研究质量进行评价。
结果 MTHFR基因C677T多态性与DR密切相关。DR组与健康对照相比,MTHFR-C677T突变发生的比值比在等位基因对比模型(95%CI:1.29-2.18,P<0.001,I 2=78.4%)、显性模型(95%CI:1.62-3.29,P<0.001,I 2=74.7%)和纯合子模型(95%CI:1.70-3.83,P=0.008,I 2=54.4%)中分别为1.68、2.55和2.31。DR组与非复杂糖尿病组相比,MTHFR-C677T突变发生的比值比在等位基因对比模型中为1.50(95%CI:1.07-2.11,P=0.032,I 2=62.1%),在纯合子模型中为2.39(95%CI:1.06-5.38,P=0.017,I 2=66.7%),在显性模型中为1.59(95%CI:0.97-2.62,P=0.056,I 2=56.5%)。在杂合子模型中,DR组与健康对照组相比,MTHFR-C677T突变的发生的比值比为1.46(95%CI:1.64-3.69,P=0,I 2=77.3%),而杂合子模型中,DR组与非复杂糖尿病组相比,MTHFR-C677T突变发生的差异无统计学意义(OR=1.38,95%CI:0.87-2.18,P=0.356,I 2=3.1%)。在隐性模型中,DR组与非复杂糖尿病组相比,MTHFR-C677T突变发生的比值比为1.92(95%CI:1.07-3.43,P=0.064,I 2=55%)。DR组与糖尿病对照组相比,发生MTHFR-C677T突变的差异在各模型中均无有统计学意义。
结论 MTHFR基因C677T多态性与DR存在相关性,尤其与非复杂糖尿病对照组相比。今后需要进一步的研究以明确这种关系。

关键词: 亚甲基四氢叶酸还原酶基因C677T, 多态性, 糖尿病视网膜病变, 荟萃分析


Objective To investigate the association between the methylenetetrahydrofolate reductase gene C677T (MTHFR C677T) polymorphism and diabetic retinopathy (DR).
Methods A total of 6971 subjects including 2707 DR patients and 4264 controls from 23 studies were enrolled in the study. A random-effects model was applied to estimate the overall effects and the stratified effects of the MTHFR C677T polymorphism on the risk of DR, and study quality was also assessed.
Results Strong associations were observed between the MTHFR C677T polymorphism and DR. The carries of MTHFR C677T were more likely to be found in the DR group in relative to the healthy control group with odds ratio 1.68, 2.55, and 2.31 respectively in allele contrast model (T vs. C, 95%CI: 1.29-2.18, P<0.001, I 2=78.4%), homozygous model (TT vs. CC, 95%CI: 1.70-3.83, P=0.008, I 2=54.4%) and dominant model (TT+CT vs. CC, 95%CI: 1.62-3.29, P<0.001, I 2=74.7%). This association can also be found in contrast to the Ncd (non-complicated diabetic mellitus) group (allele contrast, OR=1.50, 95%CI: 1.07-2.11, P=0.032, I 2=62.1%; homozygous, OR=2.39, 95%CI: 1.06-5.38, P=0.017, I 2=66.7%; dominant, OR=1.59, 95%CI: 0.97-2.62, P=0.056, I 2=56.5%). For the heterozygous model (CT vs. CC), the association was significant in contrast to the healthy control group (OR=1.46, 95%CI: 1.64-3.69, P=0, I 2=77.3%), while in contrast to the Ncd control group the association was not statistically meaningful (OR=1.38, 95%CI: 0.87-2.18, P=0.131, I 2=43.7%). For the recessive model, 1.92-fold increased risk was found only in contrast to the Ncd control group (95%CI: 1.07-3.43, P=0.064, I 2=55.0%). There was no significant association found in the models in contrast to the DM control group.
Conclusion In this meta-analysis, we found an association between the MTHFR C677T polymorphism and DR, especially in contrast to the Ncd control group. Further studies are required to establish more definite relationship.

Key words: methylenetrahydrofolate reductase gene C677T, polymorphism, diabetic retinopathy, meta-analysis

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