Genome‐wide association study of periodontitis severity and progression

This study assessed the association of gene variants in association with gum disease severity and progression in 416 participants of a clinical study. Participants were 168 adults (mean age = 50 years, 46% males) with severe disease and 248 adults (mean age = 48 years, 40% males) without severe disease, including 147 with mild disease and 101 without disease. Disease progression information over a 12-month period was available for 368 of these participants. Single marker discovery analysis relied on logistic regression models adjusted for age, sex, and genetically determined ancestry. Genome-wide significant loci were annotated and examined for associations with periodontal disease traits in external cohorts of 10,019 Hispanic/Latinos, 4,554 European Americans, and 973 African Americans. All gene variants explained 34% of the variance between cases and controls and 57% of the variance in disease progression in this study. We identified 2 genome-wide significant loci associated with disease progression (SUMO2P2 and CUBN). CUBN was strongly associated with periodontal disease in the independent samples of African Americans and Hispanic/Latinos. ZBTB16 showed the strongest evidence of association with severe periodontitis. This study's results emanate from a well-characterized cohort of periodontitis severity and progression, suggest that about one-third of variance in disease severity and over half of variance in disease progression are attributable to individual susceptibility, and add to the knowledge base of periodontal genomics.