MTHFR rs1801133 C>T polymorphism is associated with an increased risk of tetralogy of Fallot
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- Published online on: January 15, 2014 https://doi.org/10.3892/br.2014.222
- Pages: 172-176
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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.
