Genomic Determinants and Shared Genetic Pathways of Periodontal Disease


Despite significant improvement in treating periodontal disease (PD) and the identification of multiple risk factors, little is known about the specific contribution of genetics to PD pathogenesis. Several genomewide association studies (GWAS) of PD have been published, but only one reported locus has reached the threshold for genome-wide significance. Epidemiological studies and biological experiments established associations and suggested common pathogenetic pathways between PD and cardiovascular disease (CVD), diabetes (DM), and osteoporosis. The overall objective is to identify genetic loci for PD as a first step toward a better understanding of PD pathogenesis. In a preliminary study in the Women's Genome Health Study (WGHS), new-onset cases of PD were associated with a family history of myocardial infarction (MI). Further preliminary analyses presented shared phenotypic variation of PD/CVD, PD/DM, or PD/osteoporosis that could be accounted by the whole-genome genetic matrices. Several variants from the GWAS catalog of bone density and family history of MI were found correlated with PD in the WGHS. Based on these findings and the literature, the central hypothesis is that there are common pathogenetic links between PD and these other diseases and that GWAS using the comorbidity case definitions will help identify potential common loci.

Study Start Date

January, 30 2018

Estimated Completion Date

August 2022


  • Other: Disease status

Study ID

Tufts University -- HH1804



Trial ID


Study Type


Trial Phase


Enrollment Quota



Tufts University

Inclusion Criteria

  • Women who are willing to consent for requesting dental records
  • Outcome 1
  • Women who reported periodontal disease diagnosis at any time point up to the 2006 follow up
  • Outcome 1
  • Women whose dental records will be retrievable and usable (retrospectively 2 years and prospectively 1 year at the time of report of periodontal disease diagnosis)
  • Outcome 2
  • Women who are willing to complete and turn-in the WHS 2018 Annual Follow-up Questionnaire with CDC-AAP oral health questions
  • Outcome 2
  • Women whose dental records will be retrievable and usable (retrospectively 3 years at the time of 2018 Annual Follow-up Questionnaire turn-in)
  • The definition of usable dental records consist of but not exclusive to clinical note, complete periodontal charting, and full-mouth radiographs series (FMX) or panoramic, bite-wing radiographs that could derive a PD diagnosis based on the American Academy of Periodontology 1999 definitions.

Exclusion Criteria

  • Women whose dental records are not retrievable or incomplete.




45 Years to 100 Years

Accepts Healthy Volunteers


Study Locations and Contact Information (1)

Study Location Distance Name Phone Email
Brigham and Womens Hospital - Boston, Massachusetts 2.4 miles YauHua Yu DDS DMSc 617-636-6659 provides clinical trial listings in an easy to view format. All clinical trial information is pulled directly from This website does not guarantee acceptance into any clinical trial, and is not responsible for adverse events that may be incurred from a clinical trial.