Gene mapping and functional annotation of GWAS of oral ulcers using FUMA software.

Xiaoye Jin, Yijie Wang, Xingru Zhang, Wenqing Zhang, Hongdan Wang, Chuanliang Chen

Scientific reports 2020 Jul 22

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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.

Citation

Xiaoye Jin, Yijie Wang, Xingru Zhang, Wenqing Zhang, Hongdan Wang, Chuanliang Chen. Gene mapping and functional annotation of GWAS of oral ulcers using FUMA software. Scientific reports. 2020 Jul 22;10(1):12205