|Institution:||University of North Carolina – Chapel Hill|
|Full text PDF:||http://dc.lib.unc.edu/u?/etd,946|
The etiology of skeletal Class III malocclusion is multifactorial, complex and likely results from mutations in numerous genes. In this study, we sought to understand the phenotype/genotype correlation of the Class III trait in 3 specific populations, a Colombian cohort, Amelogenesis Imperfecta (AI) cohort and a Caucasian cohort. The phenotype was evaluated using multiple statistical comparisons of 3 populations followed by genetic analysis of 2 populations. Phenotypic analysis indicated a difference between the z-scores of 10 cephalometric variables among the 3 groups. Pedigree analysis by inspection supported an autosomal dominant mode of inheritance with incomplete penetrance. A Genome-wide scan and linkage analysis of members in 2 cohorts revealed 3 regions suggestive of linkage for the Colombian cohort but was inconclusive for the AI cohort. Our phenotypic and genetic analysis highlights that each group is unique, and that differences between them could be due to specific craniofacial morphologic features.