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Article

MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot

  • Authors:
    • Jianbing Huang
    • Ju Mei
    • Lianyong Jiang
    • Zhaolei Jiang
    • Hao Liu
    • Fangbao Ding
  • View Affiliations / Copyright

    Affiliations: Department of Cardiothoracic Surgery, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200092, P.R. China
  • Pages: 172-176
    |
    Published online on: January 15, 2014
       https://doi.org/10.3892/br.2014.222
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Abstract

Abnormal folate metabolism and common variants of folate‑metabolizing enzymes have been described as possible risk factors for congenital heart disease (CHD). Two important folate‑metabolizing enzymes involved in the folate/homocysteine metabolic pathway are 5,10‑methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase 1 (MTHFD1). MTHFR and MTHFD1 polymorphisms may be associated with CHD susceptibility. To evaluate the impact of MTHFR and MTHFD1 single‑nucleotide polymorphisms (SNPs) on CHD susceptibility, we genotyped functional MTHFR SNPs rs1801133 C>T, rs1801131 A>C and rs2274976 G>A, and MTHFD SNPs rs2236225 C>T, rs1950902 G>A and rs1076991 A>G in a hospital‑based case‑control study of 173 tetralogy of Fallot (TOF) cases and 207 non‑CHD controls. When MTHFR rs1801133 CC homozygote genotype was used as the reference group, the TT genotype was associated with a significantly increased risk for TOF [TT vs. CC: odds ratio (OR)=1.67; 95% confidence interval (CI): 1.01‑2.75; P=0.046]. In the recessive model, when MTHFR rs1801133 CC/CT genotype was used as the reference group, the TT homozygote genotype was associated with a significantly increased risk for TOF (OR=1.81, 95% CI: 1.15‑2.84; P=0.010). In conclusion, our findings suggest that MTHFR rs1801133 C>T polymorphism may play a role in susceptibility for TOF. Large-scale studies with a more rigorous study design including diverse ethnic populations are required to confirm these findings.
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Copy and paste a formatted citation
Spandidos Publications style
Huang J, Mei J, Jiang L, Jiang Z, Liu H and Ding F: MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot. Biomed Rep 2: 172-176, 2014.
APA
Huang, J., Mei, J., Jiang, L., Jiang, Z., Liu, H., & Ding, F. (2014). MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot. Biomedical Reports, 2, 172-176. https://doi.org/10.3892/br.2014.222
MLA
Huang, J., Mei, J., Jiang, L., Jiang, Z., Liu, H., Ding, F."MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot". Biomedical Reports 2.2 (2014): 172-176.
Chicago
Huang, J., Mei, J., Jiang, L., Jiang, Z., Liu, H., Ding, F."MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot". Biomedical Reports 2, no. 2 (2014): 172-176. https://doi.org/10.3892/br.2014.222
Copy and paste a formatted citation
x
Spandidos Publications style
Huang J, Mei J, Jiang L, Jiang Z, Liu H and Ding F: MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot. Biomed Rep 2: 172-176, 2014.
APA
Huang, J., Mei, J., Jiang, L., Jiang, Z., Liu, H., & Ding, F. (2014). MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot. Biomedical Reports, 2, 172-176. https://doi.org/10.3892/br.2014.222
MLA
Huang, J., Mei, J., Jiang, L., Jiang, Z., Liu, H., Ding, F."MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot". Biomedical Reports 2.2 (2014): 172-176.
Chicago
Huang, J., Mei, J., Jiang, L., Jiang, Z., Liu, H., Ding, F."MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot". Biomedical Reports 2, no. 2 (2014): 172-176. https://doi.org/10.3892/br.2014.222
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