Association analysis between MTHFR genetic polymorphisms and the risk of congenital heart diseases in Chinese Han population

Objectives Congenital heart diseases (CHD) are common birth defects in the world. The methylenetetrahydrofolate reductase (MTHFR) gene is one of the most important candidate genes for the development of CHD. This case-control study aimed to evaluate the effect of MTHFR c.382A>G and c.1129C>T genetic polymorphisms as risk factors for the development of CHD. Methods A total of 230 CHD patients and 237 non-CHD controls were included in the present study. The genotyping of MTHFR c.382A>G and c.1129C>T genetic polymorphisms were detected by the polymerase chain reaction-restriction fragment length polymorphism and created restriction site-polymerase chain reaction methods, respectively. Key findings The alleles/genotypes distribution from these two genetic polymorphisms were statistically associated with the increased risk of CHD (for c.382A>G, GG versus AA: odds ratio (OR) = 2.39, 95% confidence interval (CI), 1.27 to 4.52, P = 0.006; for c.1129C>T, TT versus CC: OR = 2.73, 95% CI, 1.33 to 5.62, P = 0.005). The allele G and genotype GG of c.382A>G and allele T and genotype TT of c.1129C>T genetic polymorphisms might contribute to CHD susceptibility. Conclusion These preliminary findings indicate that these two MTHFR genetic polymorphisms are related with the risk of CHD in Chinese Han population, and might be potentially utilized as molecular markers.