Dental phenomics: advancing genotype to phenotype correlations in craniofacial research

Abstract

The field of dental phenomics provides many opportunities to elucidate the roles of genetic, epigenetic and environmental factors in craniofacial development. To date, research findings have helped to clarify the pathogenesis of many conditions, aiding diagnosis and clinical management. This paper provides an overview of dental phenomics research in some commonly encountered oral diseases in everyday clinical practice, as well as research relating to craniofacial growth and development. Clinically, advances in cariology and periodontology have led to better diagnostic capabilities and treatment provision. In the study of growth and development, important information regarding the varying clinical presentation and pathogenesis of many disorders is now apparent through the accurate quantification of phenotypes. Improvements in two-dimensional (2D) and three-dimensional (3D) imaging and analytical techniques have allowed for accurate dental phenotyping, and efforts are ongoing to apply these in vitro techniques to the in vivo setting. The field of dental phenomics represents an exciting avenue that links research findings to practical application, and collaboration between researcher and clinicians will help advance the field further.Keywords: Dentistry, genetics, epigenetics, phenomics, morphometrics.Abbreviations and acronyms: CL/P = cleft lip and/or palate; CPP-ACP = casein phosphopeptide-amorphous calcium phosphate. DP = digital photography; EDI = Enamel Defects Index; GIS = geographic information system; n-HAp = nano-hydroxyapatite; OPC = orientation patch count; OPCR = orientation patch count rotated; QLF = quantitative light-induced fluorescence; SMMCI = solitary maxillary median central incisor.

Three-dimensional profilometric assessment of early enamel erosion simulating gastric regurgitation

“…Future studies are needed to complement the data on profilometric changes from early erosion with changes in physical and chemical changes of the tooth structures using established and evolving techniques [51][52][53][54][55][56][57][58] in order to provide an holistic assessment of early erosion process. Such an approach will enable quantitative data to be gathered on enamel softening, together with qualitative observations of increased porosity in partially lost and demineralized hydroxyapatite crystals (as displayed in stages 2, 3 and 4 in Fig.…”

Odontogenic facial swelling of unknown origin

“…These techniques are important laboratory research tools in dental phenomics research. [17][18][19] Ongoing rapid technological advancements in highresolution CT technology have opened the opportunities to explore more relevant clinical applications. This report examines the application of micro-CT imaging to enable detailed visualization and to establish post-extraction diagnosis of subtle odontogenic defects that had given rise to facial swellings in two paediatric patients.…”

The Mature Stomatognathic System Is a Complex Adaptive System

“…Such knowledge has implications in dental education and clinical practice in relation to restoration of functionality of teeth. Furthermore, this approach opens new directions for future research in dental phenomics that has the potential to correlate large-scale genomic and phenotypic data and to improve health outcomes [15,16].…”