College of Forensic Medicine, Xi'an Jiaotong University Health Science Center, Xi'an, China.
Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, College of Stomatology, Xi'an Jiaotong University, Xi'an, China.
Sci Rep. 2020 Jul 22;10(1):12205. doi: 10.1038/s41598-020-68976-2.
Oral ulcers not only influence the physical health of patients, but they also interfere with their quality of life. However, the exact etiology of oral ulcers is not clear. To explore the roles of genetic factors in oral ulcers, a genome-wide association study of the condition in European individuals was re-evaluated by the FUMA v1.3.5e online tool. A total of 380 independent significant single nucleotide polymorphisms (SNPs) and 89 lead SNPs were identified in 34 genomic risk loci. Out of these identified genomic risk loci, 280 possible causal genes were pinpointed by positional mapping and expression quantitative trait locus mapping. Among these genes, 216 novel genes were identified. Furthermore, some genomic loci were mapped to a single gene. Functional annotation of these prioritized genes revealed that the immune response pathway was implicated in the onset of oral ulcers. Overall, our findings revealed novel possible causal genes and demonstrated that the immune response has a crucial role in the occurrence of oral ulcers.
口腔溃疡不仅会影响患者的身体健康，还会影响其生活质量。然而，口腔溃疡的确切病因尚不清楚。为了探讨遗传因素在口腔溃疡中的作用，研究人员使用 FUMA v1.3.5e 在线工具重新评估了欧洲人群中口腔溃疡的全基因组关联研究。在 34 个基因组风险位点中，共鉴定出 380 个独立的显著单核苷酸多态性（SNP）和 89 个先导 SNP。在这些鉴定出的基因组风险位点中，通过定位映射和表达数量性状基因座映射确定了 280 个可能的因果基因。在这些基因中，鉴定出 216 个新基因。此外，一些基因组位点映射到单个基因上。这些优先基因的功能注释表明，免疫反应途径与口腔溃疡的发病有关。总的来说，我们的研究结果揭示了新的可能的因果基因，并表明免疫反应在口腔溃疡的发生中起着关键作用。
