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Genome-wide association study and meta-analysis of missing teeth and functional dentition

Everman, Amanda (2018) Genome-wide association study and meta-analysis of missing teeth and functional dentition. Master's Thesis, University of Pittsburgh. (Unpublished)

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Retention of a functional dentition of twenty or more permanent teeth is an important World Health Organization (WHO) goal, as missing teeth adversely affects oral health quality of life, especially masticatory function and aesthetic appearance and satisfaction. Previous studies show that tooth loss is moderately heritable, and genome-wide association studies (GWAS) of periodontitis and dental caries, the two main causes of tooth loss, have successfully identified genetic variants associated with these oral diseases. Thus, this work aimed to identify genetic variants associated with missing teeth by performing genome-wide association scans in five cohorts and a subsequent meta-analyses. Genome-wide association scans using linear and logistic regression for a quantitative trait and functional dentition, respectively, were performed in five cohorts: The Center for Oral Health Research in Appalachia cohort 1 (COHRA; N = 955), Dental Registry and DNA Repository of the University of Pittsburgh School of Dental Medicine (DRDR; N = 227), and cohorts from The Pittsburgh Orofacial Clefts Studies (POFC) project recruited from the United States (POFC-USA; N = 192), Guatemala (POFC-G; N = 272), and the Patagonia region of Argentina (POFC-PA; N = 182). Three p-value based meta-analyses were performed: a white-only meta-analysis (COHRA and DRDR; N = 1182), a Hispanics-only meta-analysis (POFC-G and POFC-PA; N = 454), and a trans-ethnic meta-analysis (COHRA, DRDR, POFC-G, and POFC-PA; N = 1636). Two regions of the genome were associated with missing teeth at genome-wide significance (p < 5 x 10-8) and were located near genes relevant to dental and oral health (POSTN, a critical regulator of periodontal homeostasis, and MTRR, which functions in methionine synthesis, a process previously implicated by GWAS of dental caries.) Furthermore, many regions of the genome showed suggestive significance (p < 1 x 10-5) and were located near genes biologically relevant to tooth loss. These discoveries corroborate existing evidence for a genetic contribution to tooth loss, and supports the hypothesis that common genetic variants influence tooth loss. The public health significance of this work is that such findings may ultimately lead to the identification of individuals at risk for tooth loss and the development of novel treatments.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Everman, Amandaame84@pitt.eduame84
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairShaffer,
Committee MemberKammerer,
Committee MemberNeiswanger,
Date: 28 June 2018
Date Type: Publication
Defense Date: 20 March 2018
Approval Date: 28 June 2018
Submission Date: 4 April 2018
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 231
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Human Genetics
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: genome-wide association study, meta-analysis, tooth loss, functional dentition, genetics, dental health, missing teeth
Date Deposited: 28 Jun 2018 20:03
Last Modified: 28 Jun 2018 20:03


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