Validation in a Brazilian population of gene markers of periodontitis previously investigated by GWAS and bioinformatic studies

作者：Thamiris Cirelli, Rafael Nepomuceno, Silvana Regina Perez Orrico, Carlos Rossa, Joni Augusto Cirelli, Kari E. North, Mariaelisa Graff, Silvana P. Barros, Raquel Mantuaneli Scarel‐Caminaga · 发表于：Journal of Periodontology · 年份：2020 · DOI：10.1002/jper.20-0126 · 被引用次数：13 · 研究领域：Oral microbiology and periodontitis research、Streptococcal Infections and Treatments、Immune Response and Inflammation

BACKGROUND: Bioinformatic tools and genome-wide association studies (GWAS) have led to comprehensive identification of single nucleotide polymorphisms (SNPs) associated with periodontitis in diverse populations. Here we aimed to detect and validate the association of seven SNPs as genetic markers of susceptibility to periodontitis in a Brazilian population. METHODS: This case-control study assessed complete periodontal parameters of 714 subjects with periodontal status classified as healthy/mild periodontitis (n = 356) and moderate/severe periodontitis (n = 358). Genotyping for rs187238, rs352140, rs1360573, rs2521634, rs3811046, rs3826782, and rs7762544 SNPs were evaluated. Genetic-phenotype associations, and sex or smoking effects of SNPs on periodontitis were tested using multiple logistic regressions adjusted for covariates. RESULTS: The rs2521634-AA (close to NPY gene) presented increased risk for severe periodontitis (OR = 2.34; 95% CI = 1.19-4.59). The rs3811046-GG (IL37 gene) demonstrated increased risk for moderate periodontitis (OR = 2.58; 95% CI = 1.28-5.18). Higher risk for moderate periodontitis was found in male with rs7762544-AG close to NCR2 gene. The rs352140-TT in the TLR9 gene proved to be associated with lower risk to severe periodontitis in men. The rs2521634-AA was associated with higher percentage of interproximal probing pocket depth (P = .004). CONCLUSIONS: This is the first evidence of validation in a Brazilian population of genetic markers of period...