Journal of Endocrinological Investigation

, Volume 29, Issue 9, pp 814–820

Methylenetetrahydrofolate reductase gene polymorphism, homocysteine and risk of macroangiopathy in Type 2 diabetes mellitus

Original Articles

DOI: 10.1007/BF03347376

Cite this article as:
Sun, J., Xu, Y., Zhu, Y. et al. J Endocrinol Invest (2006) 29: 814. doi:10.1007/BF03347376


Objective: A polymorphism in the gene for methylenetetrahydrofolate reductase (MTHFR) has been reported to be associated with hyperhomocysteinemia and risk for atherosclerotic vascular diseases. In this case-control study, we examined the distribution of the MTHFR genotypes in the Chinese population and clarified the relationship between the gene polymorphism for MTHFR and macroangiopathy in Chinese Type 2 diabetes mellitus. Methods: Two hundred and sixteen unrelated patients with Type 2 diabetes mellitus, 112 of whom had macroangiopathy, and 114 healthy control subjects, were recruited. The MTHFR C677T genotype was analyzed by polymerase chain reaction-restriction fragment length polymorphism. Plasma total homocysteine levels were measured using high-performance liquid chromatography (HPLC) with fluorescence detection. Results: In 114 healthy control subjects, the frequency of the mutant T allele was 31.1%. The genotype distribution did not differ between control subjects and Type 2 diabetic patients (χ2=3.03, p=0.220). Genotypic analysis revealed that the MTHFR genotype was different between diabetic patients with and without macroangiopathy (χ2=12.42, p=0.002). Type 2 diabetic patients with macroangiopathy displayed a greater prevalence of T allele than Type 2 diabetic patients without macroangiopathy (44.6 vs 29.3%; χ2=10.82, p=0.001). The odds ratio for macroangiopathy in Type 2 diabetic patients in presence of T allele was 1.94 [confidence interval (CI) 95%: 1.31–2.89]. Moreover, plasma homocysteine levels were markedly higher in individuals with TT genotype than those with CC or CT genotype. Conclusions: The C677T mutation of MTHFR gene is common in the Chinese population. MTHFR C677T gene polymorphism associated with a predisposition to increased plasma homocysteine levels could constitute a useful predictive marker for macroangiopathy in Chinese Type 2 diabetic patients.


Geneticsmethylenetetrahydrofolate reductaseType 2 diabetes mellitusmacroangiopathy homocysteine

Copyright information

© Italian Society of Endocrinology (SIE) 2006

Authors and Affiliations

  1. 1.Department of Endocrinology, Zhongnan HospitalWuhan UniversityWuhanChina