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Bezamat Coutinho Lucas, Mariana (2021) ORAL HEALTH OUTCOMES AS POTENTIAL INDICATORS OF CANCER EXPERIENCE. Doctoral Dissertation, University of Pittsburgh. (Unpublished)

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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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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Bezamat Coutinho Lucas, Mariana
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairVieira, Alexandrearv11@pitt.eduarv11
Committee MemberModesto Vieira, Adrianaams208@pitt.eduams208
Committee MemberNapierala, Dobrawadon11@pitt.edudon11
Committee MemberTaboas, Juanjmt106@pitt.edujmt106
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


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