Evaluation of the Genetic Association and Methylation of Immune Response Pathway Genes with the Risk of Chronic Periodontitis in the Uighur Population

Abstract

The aim of this study was to explore the possible associations between single nucleotide polymorphisms (SNPs) and DNA methylation levels of seven genes in the inflammatory response pathway with susceptibility to chronic periodontitis (CP) among the Uighur population of the Xinjiang Autonomous Region of China. Methods: A total of 444 eligible subjects (279 CP patients and 165 healthy controls) were enrolled in the study. Genomic DNA was obtained from gingival tissue for genotyping eight SNPs and performing methylation measurements of seven genes. Results: SNP rs2070745 in the formyl peptide receptor 1 (FPR1) gene achieved statistical significance in a standard allelic association analysis for CP ( p = 0.02). The frequency of the rs2070745 minor allele G was higher in the cases than in controls (0.367 vs. 0.291). Additionally, rs2070745 was significantly associated with CP under the dominant genetic model ( p = 0.03). Using logistic regression analysis, rs2070745 was found to be consistently associated with CP under the additive dominant model, and this association remained significant after covariates were taken into account [odds ratio (OR) = 1.49 (1.09-2.05), p = 0.014; OR = 1.58 (1.04-2.40), p = 0.031, respectively]. No significant gene-gene interactions were identified. Although we did not find a polymorphism in interleukin 6 (IL6) associated with CP in our study, the methylation level of a CpG island region located within the promoter region of IL6 was significantly less in CP patients compared with controls ( p < 0.05). Conclusions: The genetic polymorphism rs2070745 in FPR1 and the methylation level of the promoter region of IL6 might be associated with CP in the Uighur population of China.