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Association study between methylenetetrahydrofolate reductase gene polymorphisms and Graves' disease.

Authors: Mao, R  Fan, Y  Zuo, L  Geng, D  Meng, F  Zhu, J  Li, Q  Qiao, H  Jin, Y  Bai, J  Fu, S 
Citation: Mao R, etal., Cell Biochem Funct. 2010 Oct;28(7):585-90. doi: 10.1002/cbf.1694.
Pubmed: (View Article at PubMed) PMID:20941748
DOI: Full-text: DOI:10.1002/cbf.1694

5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the metabolism of folate and nucleotides, which are essential for DNA synthesis and methylation. It is highly polymorphic, and its variant genotypes result in lower enzymatic activity and higher plasma homocysteine. Previous studies have provided evidence that a high prevalence of MTHFR gene polymorphisms is frequently detected in patients with autoimmune disease, suggesting a novel genetic association with autoimmune disorders. However, the genetic association between MTHFR and Graves' disease (GD), one of the most common autoimmune diseases, has not been studied. Here, we designed a clinic-based case-control study including 199 GD cases and 235 healthy controls to examine the associations between three common MTHFR polymorphisms (i.e., C677T, A1298C, and G1793A) and GD. Surprisingly, logistic regression analysis shows MTHFR 677CT + TT genotypes are associated with an approximately 42% reduction in the risk of GD in women (adjusted OR = 0.58, 95% CI = 0.3-0.9), compared to the CC genotype, indicating a significant protective effect of 677CT + TT genotypes. Our result provides epidemiological evidence that MTHFR mutation (C677T) protects women from GD. The protective effect, possibly obtained by influencing DNA methylation, should be confirmed in a large number of cohorts.

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RGD Object Information
RGD ID: 7387246
Created: 2013-10-24
Species: All species
Last Modified: 2013-10-24
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.