Association Of Methylation Status In The MTHFR Promoter Region With Congenital Heart Diseases

Objective The etiogenic mechanisms of congenital heart diseases (CHDs) are still poorly known. Single nucleotide polymorphisms (SNPs) in the Methylenetetrahydrofolate reductase (Methylene tetrahydrofolate reductase ,MTHFR) gene have been revealed to be involved in CHDs; However, other mechanisms of pathogenesis, for example, promoter region hypermethylation, may also play a important role. Therefore, in our study, we compared the methylation status of the promoter region of MTHFR in children with CHDs with children without congenital birth defects. We did it in order to get the message of the relation of the methylation status of the promoter region of MTHFR and CHDs. Methods we collected peripheral venous blood samples of 53 patients with CHDs and 80 healthy children without congenital birth defects (controls), and abstracted DNA from leukocytes. Then, the DNA were modified by sodium bisulfite and analyzed by Methylation Specific PCR (MSP) amplification, which use primers that hybridize to the CpG islands in the promoter region of MTHFR. And the relation of the methylation status of the promoter region of MTHFR and CHDs was analyzed by case-control study.Results In peripheral venous blood, the analysis result of MSP revealed that, the complete methylation ratio in case (2/53,3.77%) is slightly higher than control(2/80,2.50%); the non-complete methylation ratio in case (13/53,24.53%) is also slightly higher than control (9/80,11.25%). But there is no statistical significance between them (p=0.110). Conclusions There is no differences between children with CHDs and children without congenital birth defects about the methylation status of the promoter region of MTHFR,The causative mechanisms of CHDs is not due to the hypermethylation status of the promoter region of MTHFR.