State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, West China School of Stomatology, Sichuan University, Chengdu, China.
State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Department of Oral Implantology, West China Hospital of Stomatology, Sichuan University, Chengdu, China.
Front Immunol. 2022 Jul 25;13:931408. doi: 10.3389/fimmu.2022.931408. eCollection 2022.
Oral ulcers are one of the most common inflammatory diseases on oral mucosa that have obvious impacts on patients. Studies have shown that N6-methyladenosine (m6A) RNA transcription modification may be involved in the development of various inflammatory responses, and whether the pathogenesis of oral ulcers is related to m6A is unclear. This study aims to identify how m6A-related single nucleotide polymorphisms (m6A-SNPs) may affect oral ulcers. The UKBB dataset containing 10,599,054 SNPs was obtained from the GWAS database using the keyword "oral ulcer" and compared with the M6AVar database containing 13,703 m6A-SNPs.With 7,490 m6A-SNPs associated with oral ulcers identified, HaploReg and RegulomeDB were used for further functional validation and differential gene analysis was performed using the GEO database dataset GSE37265. A total of 7490 m6A-SNPs were detected in this study, 11 of which were related to oral ulcers (p<5E-08), and all of these SNPs showed eQTL signals. The SNP rs11266744 (p=2.00E-27) may regulate the expression of the local gene CCRL2, thereby participating in the pathogenesis of oral ulcers. In summary, by analyzing genome-wide association studies, this study showed that m6A modification may be involved in the pathogenesis of oral ulcers and CCRL2 may be the targeted gene.
口腔溃疡是口腔黏膜最常见的炎症性疾病之一，对患者有明显影响。研究表明，N6-甲基腺苷（m6A）RNA 转录修饰可能参与各种炎症反应的发生，口腔溃疡的发病机制是否与 m6A 有关尚不清楚。本研究旨在探讨 m6A 相关单核苷酸多态性（m6A-SNPs）是否可能影响口腔溃疡的发生。本研究从 GWAS 数据库中使用“口腔溃疡”这一关键词获取包含 10599054 个 SNPs 的 UKBB 数据集，并与包含 13703 个 m6A-SNPs 的 M6AVar 数据库进行比较。共鉴定出 7490 个与口腔溃疡相关的 m6A-SNPs，其中 11 个与口腔溃疡相关（p<5E-08），所有这些 SNPs 均显示出 eQTL 信号。SNP rs11266744（p=2.00E-27）可能调节局部基因 CCRL2 的表达，从而参与口腔溃疡的发病机制。总之，通过对全基因组关联研究进行分析，本研究表明 m6A 修饰可能参与口腔溃疡的发病机制，CCRL2 可能是其靶基因。
