Deep analysis of methylation profile in congenital microtia and verification of the differential genes / 中华整形外科杂志

ABSTRACT

Objectives@#To explore the differences in signal pathway and gene expression related to the pathogenesis of congenital microtia by the in-depth analysis of DNA methylation profiling of auricular chondrocytes from congenital microtia patients.@*Methods@#Genome wide methylation profile of congenital microtia was obtained by MeDIP chip technology, and analyzed by Gene ontology (GO) and Pathway analysis. The gene expression levels of Wnt1 and Wnt11 were evaluated by Real-time PCR in the auricular cartilage from the healthy side and affected side of the congenital microtia patients , and healthy controls.@*Results@#The GO and Pathway assay showed that Wnt signal pathway was enriched in differential methylated levels. The Wnt1 and Wnt11 genes were with higher methylation in the promoter region and CpG islands in healthy control group than that in microtia group, in addition the methylation level in the affected side auricular cartilage was lower than that in the healthy side. There was no difference in Wnt1 and Wnt11 gene expression in microtia patients and healthy controls. The higher Wnt11 gene expression was detected in the affected side residual cartilage tissues than in the healthy side cartilage tissues of the same congenital microtia patient.@*Conclusions@#The over expression of Wnt11 during embryonic development might be associated with the pathogenesis of congenital microtia. The mechanism of the difference in methylation levles of Wnt11 affecting pathogenesis of congenital microtia needs further research.