Abstract

BackgroundCurrently identified genetic and environmental factors account only for 50% of celiac disease (CD) pathogenesis. Recently, scientists directed special focus on the role of epigenetic factors particularly DNA methylation in predisposition of CD to open new windows for better disease pathogenesis elucidation, leading to identifying novel therapeutic targets. We aimed for the first time to investigate the DNA methylation level of the promoter area of MTHFR, MALT1 and MAP3K7 genes in peripheral blood of CD patients. Materials and methodsThis pilot study included 50 Egyptian newly diagnosed pediatric patients with CD and 30 healthy subjects. DNA methylation status in peripheral blood was evaluated using methyl specific polymerase chain reaction. ResultsThe level of MTHFR methylation in patients was significantly higher in comparison with controls (p = 0.001), while that of MAP3K7 and MALT methylation showed no statistically significant difference between the two groups (p = 0.2, 0.4 respectively). ConclusionsOur data may suggest the possible role of MTHFR promotor hypermethylation in the pathogenesis of CD in Egyptian pediatric patients. Further studies should be constructed to evaluate the effect of gluten free diet on methylation level.

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