Exome Variant Analysis of Chronic Periodontitis in 2 Large Cohort Studies

Area of Science:

• Genetics
• Periodontology
• Public Health

Background:

• Periodontitis is a common inflammatory gum disease with known risk factors including socioeconomic status, age, smoking, and diabetes.
• While a genetic component is suspected, previous genome-wide association studies (GWAS) have not identified significant common single-nucleotide polymorphisms associated with chronic periodontitis.

Purpose of the Study:

• To investigate the association of rare and common exonic genetic variations with chronic periodontitis.
• To leverage the largest sample size to date for genetic predisposition studies in periodontitis.

Main Methods:

• Utilized Illumina ExomeChip data from 6,576 participants from the German population-based cohort studies Study of Health in Pomerania (SHIP) and SHIP-Trend.
• Conducted single variant and gene-based association studies using various chronic periodontitis case definitions.

Main Results:

• No statistically significant associations were found between exonic genetic variations (both rare and common) and chronic periodontitis.
• The study, despite its large sample size, did not identify genome-wide significant associations.

Conclusions:

• Finding genetic associations for chronic periodontitis requires exceptionally large sample sizes.
• Even when examining rare genetic variants, substantial sample sizes are crucial for detecting significant genetic links to periodontitis.