Evaluation of the methylation status of the MB-COMT, APC2, NR3C1, and DRD2 genes in Turkish patients with microtia

Abstract

Aims: Microtia is defined as a congenital malformation of the middle and external ears. DNA methylation is the major epigenetic modification of genomic DNA that is regulated in the early embryonic stage. In this study, we analyzed the methylation status of the MB-COMT, APC2, NR3C1, and DRD2 genes in patients with microtia. Methods: The blood samples were taken from microtia patients and healthy controls. Genomic DNA was isolated using a commercial kit. The methylation status of the MB-COMT, APC2, NR3C1, and DRD2 genes was analyzed using the methylation-specific polymerase chain reaction (MS-PCR) method. The results were evaluated statistically. Results: The DRD2 methylation status was found to be associated with microtia (p?0.001). We found that the DRD2 gene was partially methylated in all patients with microtia. There was no significant difference between the methylation status of the MB-COMT, APC2, and NR3C1 genes and microtia. Conclusion: To our knowledge, this is the first study in our country to evaluate the relationship between the methylation of these genes and the risk of microtia. Our results demonstrate the presence of epigenetic changes in the DRD2 gene during microtia development. Methylation may have contributed to the pathogenesis of microtia as it affects gene expression. Studies with larger sample sizes and in different ethnic groups are needed to further investigate the role of these genes in microtia.