Perio Disease – Genetics

Genetic risk factor’s for Periodontal Disease

Could my periodontal disease be genetic?

One third of the population have a genetic tendency to develop periodontal disease.  One half of these individuals will develop the advanced stages of periodontal disease. Many people are born with a “sensitivity” to plaque bacteria – making their periodontal disease much worse due to a “hyper-inflammatory immune response”.  One could describe it as an “allergy” or even an “auto-immune response”.  The body goes into a very destructive chronic inflammatory response. For these individuals the presence of plaque bacteria (biofilm) causes inflammation on contact, triggering the immune system to go into hyper-drive, leading to periodontal destruction.  This hyper-inflammatory immune response creates an over-production of harmful enzymes, allowing chronic periodontal bone loss and tissue destruction to ensue.  It’s important to also realize that this genetic mutation will actually create periodontal destruction, even in the absence of, or in the presence of minimal amounts of periodontal pathogens. 

How can I find out if my periodontal disease is genetic (genetic polymorphism)?

A simple genetic test called a PST or Perio ID can be performed to determine genetic susceptibility.

Salivary DNA testing identifies patients genetically predisposed to severe periodontal disease. Early detection of patients at increased risk facilitates prevention/early intervention efforts. For those patients already affected with periodontal disease, the Oral DNA Perio ID test assists a clinician in creating a personalized treatment plan. The information gained from this test can be useful for all dental and medical professionals and their patients, leading to more targeted therapy.

The Oral DNA Perio ID test detects specific variations in the IL 6 gene. The presence of this variation (mutation or polymorphism) increases the risk for periodontal disease 3 to 7-fold and for tooth loss 3-fold. The combination of an IL 6 positive test result and smoking or other risk factors such as hyperglycemia or deficiencies leads to an even greater likelihood for severe periodontal disease and early tooth loss.

What it means to be IL6 positive (genotype G/G – high risk):

Significance: The prevalence of the G/G genotype is reported to be higher in individuals with
moderate to severe chronic periodontitis and aggressive periodontitis than in individuals with no periodontal disease. This finding was independent of other risk factors such as age, smoking,
ethnic origin. The G allele is associated with overproduction of interleukin-6 (IL-6) cytokine in the
presence of pathogenic periodontal bacteria.
Risk: Individuals carrying an IL6 G allele are associated with increased odds of the concomitant
detection of A. actinomycetemcomitans, P. gingivalis and T. forsynthensis.
Consider: IL-6 is a potent stimulator of osteoclast differentiation and bone resorption, is an
inhibitor of bone formation, and overproduction has been implicated in systemic diseases such
as juvenile chronic arthritis, rheumatoid arthritis, osteoporosis, Paget’s disease and Sjogren’s
syndrome. The MyPerioID test assesses one of several risk factors that should be included in an
overall evaluation of periodontal disease. Specific bacteria are associated with the initiation of
the periodontal disease. Additional risk factors including other genetic markers, smoking,
diabetes, and oral hygiene have an amplifying effect on disease progression and duration. The
incidence of IL6 genotypes is reported to vary by ethnicity.

Patients with positive PST results overproduce the 2 active forms of interleukin 1, IL-1α and IL-1β.  What does this mean?

According to Carranza in the 9th Edition of Clinical Periodontology, IL-1 is one of the pro-inflammatory cytokines that has a central role in tissue destruction.

IL-1 is typically produced by PMN’s (polymorphic neutrophils) in response to a bacterial challenge (periodontal pathogens).  However, in the absence of periodontal pathogens, the genetic situation of the patient causes the IL-1 production.  To make matters worse, IL-1 up-regulates its own production, resulting in even more production of the cytokine.

IL-1 stimulates endothelial cells to produce chemical mediators that recruit macrophages to the site.  The macrophages are then induced to produce prostaglandin E2 (PGE2), which causes periodontal bone loss.  IL-1 is also a potent stimulant of osteoclast proliferation, differentiation and activation.  As well as inducing periodontal bone loss, IL-1 also induces production of proteinases in mesenchymal cells, including MMP’s, which may contribute to connective tissue destruction.  Matrix metalloproteinases (MMP’s) degrade extracellular matrix molecules, such as collagen, gelatin, and elastin.

The bottom line here is that people with the genetic profile are predisposed to exhibit periodontal bone and tissue loss, even in the presence of few periodontal pathogens (regardless of virulence) and even if they have good home care.  Host response is a major risk factor for chronic inflammation and continued periodontal breakdown.

Go to for more information on genetic testing, as well as the DNA pathogen testing we provide.

For more information on genetics and periodontal disease go to these sites:

What is the outlook for genetically inclined individuals?  

The good news is that advanced technologies (such as anti-inflammatory medications, periodontal endoscope treatment, and comprehensive integrative care) will now allow us to alter the predictably poor outcome of genetic periodontal disease.  These individuals are typically blamed for having poor home care, which is not always true.  Strong risk factors such as genetics must be addressed more definitively to effectively put periodontal disease into remission. No longer will only cutting the pockets out with gum surgery, or only doing blind or visual root planing, be the entire solution for these individuals.  A synergistic approach must be incorporated involving addressing the hyper-inflammatory response.  Utilizing a multifaceted approach is absolutely necessary for the successful long term management of the periodontal disease in these individuals.

Is genetic periodontal disease like an auto-immune disease?  YES

Individuals with a genetic predisposition must be identified before anything we do clinically will be successful long term. This type of disease is characterized by the over-production of destructive enzymes which causes severe destruction of the bone and gums supporting the teeth. The chronic and subtle nature of this type of disease can fool even the most astute clinician. Damage can occur quickly or slowly, therefore, preventative and more definitive care becomes crucial.  These individuals must be treated as if they have an auto-immune disease.

For more information about our non invasive periodontal protocol go to How RPE works.