Distribution of E-cadherin 1 (CDH1) promoter methylation in patients with orofacial cleft

Abstract

Methylation in the promoter region of the E-cadherin 1 gene, CDH1, which plays an important role in cell-to-cell adhesion and craniofacial morphogenesis, potentially results in gene silencing. The present study aimed to assess the methylation status of CDH1 in Indonesian patients with orofacial clefts as well as the potential association between the methylated gene and cleft occurrence. A total of 24 DNA samples from patients with orofacial cleft and 24 control samples from non-cleft individuals were analyzed using methylation-specific PCR after bisulfite treatment to modify the DNA. The CDH1 methylation status of the samples was determined using electrophoresis. In Indonesian patients with orofacial cleft, 5 (20.83%) samples were fully methylated, 19 (79.17%) were partially methylated, and none were fully unmethylated. In contrast, all control samples were partially unmethylated. However, there was no statistically significant difference in the CDH1 methylation status between patients with orofacial cleft and non-cleft individuals (p > 0.05). Methylation of the CDH1 gene promoter was observed in patients with orofacial cleft. However, there was no significant difference in the frequency of CDH1 promoter methylation between patients with orofacial cleft and non-cleft individuals (p > 0.05).