Genetic Correlation Studies On Gum Disease

person wearing silver-colored ring while holding denture

Genome Wide Association Studies (GWAS) for periodontitis have investigated measures, including the presence or absence of disease, quantitative measures of periodontal status, severe presentations of disease, molecular and microbial intermediaries of disease and composite phenotypes such as GWAS for principal components which aim to capture multiple facets of periodontal health. Recent GWAS of Chronic Periodontitis (CP) offer rich data sources for the investigation of candidate genes, functional elements, and pathways . GWAS data of CP and periodontal pathogen colonization have found susceptibility variants for periodontal disease (PD).

Periodontitis is shown to have correlation with range of adverse health traits and outcomes in observational studies, including acute endpoints of cardiovascular disease. For the periodontitis/loose teeth combined analysis, such genetic correlations were identified for 31 traits. This suggests shared genetic contributions to the same biological factors and also can be due to biological pathways which pose dental diseases as a risk factor for overall health outcomes.

For periodontitis the heritability was lower than other dental traits. This might be due to heterogeneity introduced by the different approaches to periodontal disease classification, different patterns of periodontal treatment and varying distributions of age in the cohorts or gene–environment interactions not accounted in the study design.

The top gene sets include:

Severe chronic periodontitis (“endoplasmic reticulum membrane,” “cytochrome P450,” “microsome,” and “oxidation reduction”) and moderate chronic periodontitis (“regulation of gene expression,” “zinc ion binding,” “BMP signaling pathway,” and “ruffle”).

Here goes a list of the top studied genes:


Severe Chronic Periodontitis NIN
Red Complex
Porphyromonas gingivalis
Moderate Chronic PeriodontitisHGD
Susceptibility Variants for Periodontal DiseaseDEFA1A3

NIN – Encodes a centrosomal microtubule organization. The centrosome is known to play a pivotal role in the polarization and lytic granule delivery potential of cytotoxic T lymphocytes, providing a possible link with pathogenesis of CP.
WHAMM – Functions at the interface of the microtubule and actin cytoskeletons and thus appears to be important for the regulation of the cell membrane tabulation.
AP3B2 – Encodes a subunit of the adaptor protein 3 complex, which appears to have neuron-specific functions, including neurotransmitter release via involvement in the formation of neurosecretory vesicles.
ERM1 is involved in the host immune response and has recently been recognized as a highly specific marker for eosinophils in humans .


The chromosomal regions at 21q21.1 (tagged by rs9984417) and 21q22.3 harbor putative susceptibility variants for periodontal disease.

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