Abstract
The aim of our study was to evaluate the association between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk for congenital heart disease (CHD). Electronic literature databases were searched to identify eligible studies published before Jun, 2014. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI). The publication bias was explored using Begg's test. Sensitivity analysis was performed to evaluate the stability of the crude results. A total of 35 studies were included in this meta-analysis. For the MTHFR C677T polymorphism, we detected significant association in all genetic models for Asian children and the maternal population. Significant association was also detected in T vs. C for a Caucasian paediatric population (OR = 1.163, 95% CI: 1.008–1.342) and in both T vs. C (OR = 1.125, 95% CI: 1.043–1.214) and the dominant model (OR = 1.216, 95% CI:b1.096–1.348) for a Caucasian maternal population. For the MTHFR A1298C polymorphism, the association was detected in CC vs. AC for the Caucasian paediatric population (OR = 1.484, 95% CI: 1.035–2.128). Our results support the MTHFR -677T allele as a susceptibility factor for CHD in the Asian maternal population and the -1298C allele as a risk factor in the Caucasian paediatric population.
Highlights
The aim of our study was to evaluate the association between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk for congenital heart disease (CHD)
Significant association was detected in T vs. C for a Caucasian paediatric population (OR51.163, 95% confidence interval (CI): 1.008– 1.342) and in both T vs. C (OR51.125, 95% CI: 1.043–1.214) and the dominant model (OR51.216, 95% CI:b1.096–1.348) for a Caucasian maternal population
For the MTHFR A1298C polymorphism, the association was detected in CC vs. AC for the Caucasian paediatric population (OR51.484, 95% CI: 1.035– 2.128)
Summary
The aim of our study was to evaluate the association between polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk for congenital heart disease (CHD). The importance of genetic factors in the development of CHD is supported by recent data from genomewide association studies (GWASs). A common C677T mutation (rs1801133) in the MTHFR gene has been described, which results in the conversion of the amino acid alanine to valine at position 226 in the protein This mutation was associated with a 50% reduction of MTHFR enzyme activity, an increase in plasma Hcy concentration and a decrease in plasma folic acid concentration. Another polymorphism (A1298C, rs1801131) is located in exon 7, within the presumptive regulatory domain, and results in a glutamate-to-alanine change with decreased enzyme activity in vitro[12]. Neural tube defects and pregnancy complications appear to be linked to impaired MTHFR function[13,14]
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