Abstract
OBJECTIVES: Periodontitis is linked with many health conditions, but its genetic basis is not yet understood. This genome-wide association study (GWAS) aimed to investigate the genetic variants associated with periodontitis. MATERIALS AND METHODS: This study utilised UK Biobank participants of European descent. Individuals were categorised as "having periodontitis" if they self-reported having 'painful gums', 'bleeding gums' or 'loose teeth' (n = 68,482), or as "controls" for those without these symptoms (n = 307,342). We conducted GWAS of this binary periodontitis phenotype using logistic regression models with PLINK2.0 adjusting for age, sex and the first 15 principal components to account for population stratification. RESULTS: There were 376,611 participants (mean baseline age = 57 ± 7.9 SD) included in the GWAS, and four significant loci were identified: rs775476621 on chromosome 11 (Odds Ratio, OR[T]: 3.08, p = 1.01 × 10(- 8)), rs751014048 on chromosome 11 (OR[G]: 3.07, p = 1.04 × 10(- 8)), rs149922301 on chromosome 4 near gene RP11-61G19.1 (OR[A]: 1.18, p = 2.71 × 10(- 8)) and rs368467810 on chromosome 6 near gene HIST1H3L (OR[TTTA]: 0.96, p = 3.88 × 10(- 8)). CONCLUSIONS: Within the current limitations, such as self-reported phenotype and older age of the study population, four loci were detected for periodontitis that have not previously been linked with this condition. Further exploration of the function of these loci may contribute to improved understanding of periodontitis aetiology and subsequent drug development. CLINICAL RELEVANCE: These findings offer new targets for future research to investigate the genetic impact on periodontitis and aid the future understanding of periodontitis pathology and the disease's progression.