Bezamat Coutinho Lucas, Mariana
(2021)
ORAL HEALTH OUTCOMES AS POTENTIAL INDICATORS OF CANCER EXPERIENCE.
Doctoral Dissertation, University of Pittsburgh.
(Unpublished)
Abstract
According to an estimate from the American Cancer Society in 2018, 1,735,350 people were expected to be diagnosed with cancer in the United States, with 609,640 dying from the disease. The late diagnosis of cancer has a negative impact on the health care system due to higher treatment cost and decreased chances of favorable prognosis. Due to the nature of their profession, dentists and their teams are well positioned to identify oral risk markers related to cancer, which increases the potential for early diagnosis and chances of survival. For example, tooth agenesis has been associated with increased risk for ovarian cancer. A greater awareness of oral conditions that are linked to genetic predictors of cancer susceptibility will provide dentists an opportunity to improve patient outcomes by suggesting genetic screenings for prevention. The objective of this study is to identify craniofacial conditions that might be risk markers for cancers by performing association studies and approaches such as a phenome-wide association study (PheWAS) including orofacial phenotypes. A PheWAS can determine if clinical traits (phenotypes) or specific diagnosis are associated with a given genetic variant. Hence, this study will evaluate if selected single nucleotide polymorphisms (SNPs) present in cell regulatory gene pathways are associated with orofacial conditions affecting the study population; determine whether there is an increased frequency of these conditions among individuals who have been diagnosed with cancer compared to healthy controls; and identify the range of head and neck conditions associated with the selected SNPs through a PheWAS approach. All samples were obtained through the Dental Registry and DNA Repository (DRDR) at the University of Pittsburgh, School of Dental Medicine. DNA was extracted from whole saliva using established protocols and genotyping data from over 3,000 individuals were generated using TaqMan chemistry. PLINK software was used to perform allele frequency tests and a logistic regression using R environment was performed taking covariates such as ethnicity and gender into account. We found several genetic associations with the phenotypes of interest that were later confirmed with the PheWAS approach. Additionally, novel associations that can potentially be markers of cancer risk were found.
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Details
| Item Type: |
University of Pittsburgh ETD
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| Status: |
Unpublished |
| Creators/Authors: |
| Creators | Email | Pitt Username | ORCID  |
|---|
| Bezamat Coutinho Lucas, Mariana | | | |
|
| ETD Committee: |
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| Date: |
3 June 2021 |
| Date Type: |
Publication |
| Defense Date: |
22 January 2021 |
| Approval Date: |
3 June 2021 |
| Submission Date: |
4 March 2021 |
| Access Restriction: |
No restriction; Release the ETD for access worldwide immediately. |
| Number of Pages: |
100 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Dental Medicine > Dental Science |
| Degree: |
PhD - Doctor of Philosophy |
| Thesis Type: |
Doctoral Dissertation |
| Refereed: |
Yes |
| Uncontrolled Keywords: |
Genetic variants; Tooth loss; edentulism; Tooth fracture; Gingivitis; Periodontitis; Oral health; cell regulatory pathways; Cancer; Osteoporosis; Dental phenotypes. |
| Date Deposited: |
03 Jun 2021 19:01 |
| Last Modified: |
03 Jun 2021 19:01 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/40294 |
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