Weber, Megan/M
(2015)
SEQUENCING OF ESTROGEN RELATED RECEPTOR BETA (ESRRB) AND ITS ROLE IN DENTAL CARIES EXPERIENCE.
Master's Thesis, University of Pittsburgh.
(Unpublished)
Abstract
Dental caries is a significant public health problem and is estimated to affect 60 to 90 percent of school children as well as a large number of adults. It is a chronic, infectious, multifactorial disease in which the host’s diet, microbiota, and genetic background play a role. Initial linkage studies suggested the estrogen related receptor beta (ESRRB) locus is linked to high caries experience in humans. Our hypothesis is that rare genetic variation in the coding region of ESRRB influences caries. Ninety-three whole saliva samples from a clinically well-characterized cohort were collected and extracted (62 caries samples and 31 caries free controls). We sequenced the exons and exon-intron boundaries of ESRRB and compared our results with the reference sequence transcript ENST00000505752 from the Ensembl genome browser. Eight SNPs were found in our samples with no evidence indicating these are disease-causing variants. Individuals with dental caries have an over-representation of the T allele of rs55835922 (74% versus 54%; p = 0.01). The SNP rs61742642 is a missense mutation (P386S), but its frequency was just slightly elevated in cases with dental caries (13% versus 9.5%). SNP rs35544003 is a synonymous change. Through bioinformatics analysis, we determined the SNP rs61742642 missense mutation is a benign change. Our results indicate that ESRRB may contribute to caries, but coding mutations causing the disease are not commonly found.
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Details
| Item Type: |
University of Pittsburgh ETD
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| Status: |
Unpublished |
| Creators/Authors: |
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| ETD Committee: |
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| Date: |
18 May 2015 |
| Date Type: |
Publication |
| Defense Date: |
29 January 2015 |
| Approval Date: |
18 May 2015 |
| Submission Date: |
18 February 2015 |
| Access Restriction: |
No restriction; Release the ETD for access worldwide immediately. |
| Number of Pages: |
50 |
| Institution: |
University of Pittsburgh |
| Schools and Programs: |
School of Dental Medicine > Dental Science |
| Degree: |
MS - Master of Science |
| Thesis Type: |
Master's Thesis |
| Refereed: |
Yes |
| Uncontrolled Keywords: |
Dental caries, medical genetics, single nucleotide polymorphism |
| Date Deposited: |
18 May 2015 20:29 |
| Last Modified: |
15 Nov 2016 14:26 |
| URI: |
http://d-scholarship.pitt.edu/id/eprint/23990 |
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