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Disease Markers
Volume 2014, Article ID 725731, 6 pages
Research Article

Association of Tagging SNPs in the MTHFR Gene with Risk of Type 2 Diabetes Mellitus and Serum Homocysteine Levels in a Chinese Population

1Undergraduate Student Brigade 11 Battalion, Third Military Medical University, Chongqing 400038, China
2Center for Reproductive Medicine, The First Affiliated Hospital of Jilin University, Changchun 130062, China
3Laboratory of Immune, People’s Hospital of Linyi, No. 27 Eastern Jiefang Road, Lanshan, Linyi 276003, China

Received 17 June 2014; Revised 22 July 2014; Accepted 24 July 2014; Published 6 August 2014

Academic Editor: Seul-Ki Jeong

Copyright © 2014 Han Wang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Diabetes is a global public health crisis, and the prevalence is increasing rapidly. Folate supplementation is proved to be effective in reducing the risk of diabetes or improving its symptoms. Methylenetetrahydrofolate reductase is an important enzyme involved in folate metabolism. The aim of this study is to examine whether polymorphisms in the MTHFR gene are associated with risk of type 2 diabetes mellitus (T2DM) and fasting total serum homocysteine (tHcy) levels. We genotyped nine tagging SNPs in the MTHFR gene in a case-control study, including 595 T2DM cases and 681 healthy controls in China. We found that C allele of rs9651118 had significant decreased risk of T2DM (adjusted odds ratio (OR) = 0.69, 95% confidence interval (CI): 0.55–0.87, ) compared with T allele. Haplotype analysis also showed that MTHFR CTCCGA haplotype (rs12121543-rs13306553-rs9651118-rs1801133-rs2274976-rs1801131) had significant reduced risk of T2DM (adjusted OR = 0.71, 95% CI: 0.58–0.87, ) compared with CTTTGA haplotype. Besides, the MTHFR rs1801133 was significantly associated with serum levels of tHcy in healthy controls (). These associations were still significant after Bonferroni corrections (). These findings suggest that variants in the MTHFR gene may influence the risk of T2DM and tHcy levels.