Document Type


Date of Degree

Spring 2014

Degree Name

MS (Master of Science)

Degree In


First Advisor

Lina M. Moreno


Objectives: About 2% of the US population suffers from severe malocclusion discrepancies that are beyond the limits of orthodontics alone. This study explores correlations between 3D malocclusion phenotypes and craniofacial development genes. Methods: CBCTs (124) or digital casts (161) of 285 subjects with skeletal Class I (n=60), II (n=143) and III (n=82) malocclusion were digitized with 48 dental landmarks. 3D coordinates were superimposed prior to Principal Component (PC) analyses to identify symmetric (sym) and asymmetric (asym) aspects of shape variation related to malocclusion. PCs explaining 51%-67% of total shape variation were regressed on 200 variants genotyped within 75 genes adjusting for race, gender, age and data source.

Results: Significant correlations (p<0.01) were found for sym variation with BMP3, PITX2, MAFB, SNAl3, FGF8, ABCA4-ARHGAP29, FOXL2 and asym variation PAX7, TBX1, LEFTY1, SATB2, SOX2, TP63 and the 400Kb region containing D1S435.

Conclusion: Results suggest genetic pathways associated with malocclusion.


Genotype, Malocclusion, Phenotype, Shape Analysis


ix, 142 pages


Includes bibliographical references (pages 119-142).


Copyright 2014 Cole Austin Weaver