| Presentation preference | Poster presentation |
| Title | Epigenome-wide association study identifies Vogt-Koyanagi-Harada disease-associated DNA methylation loci in Chinese |
| Purpose | To explore aberrant DNA methylation loci associated with Vogt-Koyanagi-Harada disease (VKH) disease |
| Methods | Genome-wide methylation association analysis of whole peripheral blood from 60 VKH patients and 60 healthy controls. Pyrosequencing was used for further validation in 160 patients and 159 controls comprising the same discovery 60 patients and 60 controls and an independent cohort of 100 patients and 99 controls. Real-time PCR was used to detect the mRNA expression level of genes harboring aberrant methylation loci. Methylation classifier SVM was used for biomarker development. |
| Results | We depicted the global DNA methylation status of VKH disease covering 385882 CpG sites. In HLA region, pyrosequencing validated 3 aberrant CpG sites including cg04026937 and cg18052547 (located in HLA-DRB1 region), and cg13778567 (HLA-DQA1). In non-HLA region, 9 aberrant CpG sites were identified including cg13979407, cg21075643, cg24290586, cg10135747 and cg22707857 (BTNL2), cg22155039 (NOTCH4), cg02605387 (TNXB), cg06255004 (AGPAT2) and cg18855195 (RIBC2). Increased mRNA levels of BTNL2, NOTCH4 and TNXB were identified in patients when compared with healthy controls. Moreover, seven aberrantly methylated CpG sites may serve as a diagnostic marker for VKH disease (AUC=84.95%, 95%CI: 79.49%-90.41%). |
| Conclusion | This study depicted the global DNA methylation profile of VKH disease and identified a novel set of aberrant methylation loci that are associated with VKH. These findings enrich our understanding of the contribution of epigenetic factors to the disease. |
| Conflict of interest | No |
Authors 1
| Last name | SU |
| Initials of first name(s) | G |
| Department | The first affiliated hospital of Chongqing Medical University |
| City | Chongqing |
| Country | China |
Authors 2
| Last name | Du |
| Initials of first name(s) | L |
| Department | the First Affiliated Hospital of Zhengzhou University |
| City | Zhengzhou |
| Country | China |
Authors 3
| Last name | Yang |
| Initials of first name(s) | P |
| Department | The first affiliated hospital of Chongqing Medical University |
| City | Chongqing |
| Country | China |
