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Karski, Melissa R and Leslie, Elizabeth and Neiswanger, Katherine and Kalra, Varun and Weinberg, Seth M (2015) THE INFLUENCE OF FGFR1 VARIANTS ON NORMAL HUMAN CRANIOFACIAL SHAPE. Master's Thesis, University of Pittsburgh. (Unpublished)

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The factors influencing the morphology of the human face are of interest to researchers in a variety of different fields. Craniofacial morphology is modified by both genetic and epigenetic events, and factors influencing craniofacial morphology include, but are not limited to, age, sex, mechanical function, soft-tissue matrices, hormones, and genetics. Mutations discovered within FGFR1 offer insight into the importance of this particular gene in controlling craniofacial skeletal development, and the evidence thus far connecting FGFR1 variants to quantitative craniofacial traits in the general population is inconclusive. The purpose of this study was to investigate the association between FGFR1 variants and several measures of cranial and facial shape in a sample of healthy human subjects and to serve as a replication sample for prior genotype-phenotype studies with positive findings for FGFR1. This study comprised 1375 subjects (544 Male, 795 Female, 36 unknown sex) recruited as part of the 3D Facial Norms Project. 3D facial surface images were captured using digital stereophotogrammetry and eight craniofacial measurements were analyzed: maximum cranial width, maximum cranial length, morphological face height, upper face height, nasal protrusion, cephalic index, facial index and upper facial index. Two SNP’s of FGFR1 were genotyped: rs6983315 (intronic variant) and rs13317 (3’ UTR variant). Genotype-phenotype associations were tested with linear regression, using an additive model and a full dominant model, where age and sex were included as covariates in all analyses. Results were considered significant if p ≤ 0.0015. No significant associations were observed between either of the two SNPs and any of the eight craniofacial measurements, and the association results of previous studies could not be replicated.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Karski, Melissa Rmrf36@pitt.eduMRF36
Leslie, ElizabethEJL40@pitt.eduEJL40
Neiswanger, Katherineknacct@pitt.eduKNACCT
Kalra, Varunvak3@pitt.eduVAK3
Weinberg, Seth Msmwst46@pitt.eduSMWST46
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairWeinberg, Seth Msmwst46@pitt.eduSMWST46
Committee MemberLeslie, ElizabethEJL40@pitt.eduEJL40
Committee MemberNeiswanger, Katherineknacct@pitt.eduKNACCT
Committee MemberKalra, Varunvak3@pitt.eduVAK3
Date: 9 June 2015
Date Type: Publication
Defense Date: 29 May 2015
Approval Date: 9 June 2015
Submission Date: 8 June 2015
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 55
Institution: University of Pittsburgh
Schools and Programs: School of Dental Medicine > Dental Science
Degree: MDS - Master of Dental Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: FGFR1, craniofacial, variation, normal, population
Date Deposited: 09 Jun 2015 20:03
Last Modified: 15 Nov 2016 14:28


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