Abstract
Oral inflammatory diseases (OIDs) are a group of dental diseases with multiple clinical manifestations that impact the majority of the world’s population. Many studies have investigated the associations between individual OID traits and genomic variants, but whether pleiotropic loci are shared by oral inflammatory traits remains poorly understood. Here, we conducted multitrait joint analyses based on the summary statistics of genome-wide association studies (GWASs) of five dental traits from the UK Biobank. Among these genome-wide significant loci, two were novel for both painful gums and toothache. We identified causal variants at each novel locus, and functional annotation based on multiomics data suggested IL10 and IL12A/TRIM59 as potential candidate genes at the novel pleiotropic loci. Subsequent analyses of pathway enrichment and protein–protein interaction networks suggested the involvement of the candidate genes in immune regulation. In conclusion, our results uncover novel pleiotropic loci for OID traits and highlight the importance of immune regulation in the pathogenesis of OIDs. These findings will enhance our understanding of the pathogenesis of OIDs and be beneficial for risk screening, prevention, and the development of novel drugs targeting the immune regulation of OIDs.
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Data availability
The GWAS summary statistics for MU, PG, BG, LT, and TA are available online at UK Biobank (https://www.ukbiobank.ac.uk/). The datasets supporting the conclusions of this article are included within the article and its online resource files (Online Resource 1 and Online Resource 2).
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This study was funded by the Scientific and Technological Research Grant of Tianjin Health Commission (2013KZ118) and Jinmen Medical Talent Project of Tianjin Health Commission.
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The authors declare no conflicts of interest. Specifically, Yanjiao Jin declares that she has no conflicts of interest, Jie Yang declares that she has no conflicts of interest, Shuyue Zhang declares that she has no conflicts of interest, Xuefeng Shi declares that he has no conflicts of interest, Jin Li declares that she has no conflicts of interest and Songlin Wang declares that he has no conflicts of interest.
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Jin, Y., Yang, J., Zhang, S. et al. Identification of novel genome-wide pleiotropic associations with oral inflammatory traits. Mol Genet Genomics 297, 19–32 (2022). https://doi.org/10.1007/s00438-021-01826-6
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DOI: https://doi.org/10.1007/s00438-021-01826-6