2型糖尿病中MTHFR基因多态性、血浆同型半胱氨酸水平与糖尿病视网膜病变之间的关系。

The relationship between MTHFR gene polymorphisms, plasma homocysteine levels and diabetic retinopathy in type 2 diabetes mellitus.

作者信息

Sun Jiazhong, Xu Yancheng, Zhu Yilian, Lu Hongyun, Deng Haohua, Fan Youyun, Sun Suxin, Zhang Ying

机构信息

Department of Endocrinology, Zhongnan Hospital, Wuhan University, Wuhan 430071, China.

出版信息

Chin Med J (Engl). 2003 Jan;116(1):145-7.

PMID:12667409

Abstract

OBJECTIVE

To evaluate the role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and plasma homocysteine levels in patients with type 2 diabetes mellitus and diabetic retinopathy (DR).

METHODS

Total of 208 patients with type 2 diabetes mellitus and 57 controls were recruited into the study. MTHFR genetic C677T polymorphisms were determined by PCR-RFLP. Plasma total homocysteine levels were measured using high-performance liquid chromatography (HPLC) with fluorescence detection.

RESULTS

The frequencies of MTHFR TT homogeneous type, CT heterogeneous type and allele T (28.18%, 41.82%, 49.09%) were significantly higher in the type 2 diabetes mellitus with diabetic retinopathy group than those without retinopathy (18.37%, 29.59%, 33.16%) and those of controls (17.54%, 28.07%, 31.58%). The presence of the T allele appeared to have a strong association with the development of diabetic retinopathy. The odds ratio was 1.94 with a 95% confidence interval of 1.31 - 2.88. Moreover, plasma homocysteine levels were remarkably higher in patients with TT or CT genotype than in patients with the CC genotype.

CONCLUSION

MTHFR gene C677T mutation associated with a predisposition to increased plasma homocysteine levels may be considered as a genetic risk factor for diabetic microangiopathy (such as DR) in Chinese patients with type 2 diabetes mellitus.

摘要

目的

评估亚甲基四氢叶酸还原酶（MTHFR）基因多态性及血浆同型半胱氨酸水平在2型糖尿病及糖尿病视网膜病变（DR）患者中的作用。

方法

共纳入208例2型糖尿病患者及57例对照者进行研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法检测MTHFR基因C677T多态性。采用高效液相色谱（HPLC）荧光检测法测定血浆总同型半胱氨酸水平。

结果

2型糖尿病合并糖尿病视网膜病变组中MTHFR基因TT纯合型、CT杂合型及等位基因T的频率（分别为28.18%、41.82%、49.09%）显著高于无视网膜病变的2型糖尿病组（分别为18.37%、29.59%、33.16%）及对照组（分别为17.54%、28.07%、31.58%）。T等位基因的存在似乎与糖尿病视网膜病变的发生密切相关。优势比为1.94，95%置信区间为1.31 - 2.88。此外，TT或CT基因型患者的血浆同型半胱氨酸水平显著高于CC基因型患者。