engleski

DNA METHYLTRANSFERASE GENES AND CONGENITAL HEART DEFECTS IN DOWN SYNDROME

Background: Approximately 50% of people with Down syndrome (DS) have congenital heart defect (CHD), mostly septal defect. Better understanding of the etiology of CHD is fundamental to improve diagnosis, clinical management and counselling. The DNA methylation is proved to be related with CHD, especially during embryogenesis when cardiogenesis occur. DNA methyltransferases (DNMT) genes are essential for maintaining methylation and chromatin stability, as well as the establishment of de novo methylation patterns during gametogenesis and embryogenesis. Aim: The aim of this study was to analyse the single nucleotide polymorphisms of DNMT genes: DNMT1 (rs2228611), DNMT3A (rs1550117) and DNMT3B (rs2424913, rs1569686) in DS participants according to CHD. Method: A total of 190 participants with DS have been enrolled in this study. Genotyping of polymorphisms was performed using a combination of polymerase chain reaction and restriction fragment length polymorphism methods. Statistical significance was considered at P<0.05. Results: CHDs was present in 45% (86/190) of participants. The frequency of alleles and genotypes (single or combinations) of DNMT gene polymorphisms was not significantly different between group with CHD and group without CHD (P0.05). Conclusion: The occurrence of CHD in the study group was in accordance with literature. The investigated polymorphisms of DNMT genes were not associated with the incidence of CHD among DS participants in our study.

congenital heart defects, DNA methyltransferase, DNA methylation, Down syndrome, single nucleotide polymorphism

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