Identification of Gingivitis-Related Genes Across Human Tissues Based on the Summary Mendelian Randomization

Abstract

Periodontal diseases are among the most frequent inflammatory diseases affecting children and adolescents, which affect the supporting structures of the teeth and lead to tooth loss and contribute to systemic inflammation. Gingivitis is the most common periodontal infection. Gingivitis, which is mainly caused by a substance produced by microbial plaque, systemic disorders, and genetic abnormalities in the host. Identifying gingivitis-related genes across human tissues is not only significant for understanding disease mechanisms but also disease development and clinical diagnosis. The Genome-wide association study (GWAS) a commonly used method to mine disease-related genetic variants. However, due to some factors such as linkage disequilibrium, it is difficult for GWAS to identify genes directly related to the disease. Hence, we constructed a data integration method that uses the Summary Mendelian randomization (SMR) to combine the GWAS with expression quantitative trait locus (eQTL) data to identify gingivitis-related genes. Five eQTL studies from different human tissues and one GWAS studies were referenced in this paper. This study identified several candidates SNPs and genes relate to gingivitis in tissue-specific or cross-tissue. Further, we also analyzed and explained the functions of these genes. The R program for the SMR method has been uploaded to GitHub(https://github.com/hxdde/SMR).