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Objective: This study presents a quantitative genetic analysis of human anterior dental morphology in a longitudinal sample of known genealogy. The primary aim of this work is to generate a suite of genetic correlations within and between deciduous and permanent characters to access patterns of integration across the diphyodont dental complex., Design: Data were recorded from casted tooth crowns representing participants of a long-term Australian twin and family study (deciduous n = 290, permanent n = 339). Morphological trait expression was observed and scored following Arizona State University Dental Anthropology System standards. Bivariate genetic correlations were estimated using maximum likelihood variance decomposition models in SOLAR v.8.1.1., Results: Genetic correlation estimates indicate high levels of integration between antimeres but low to moderate levels among traits within a tooth row. Only 9% of deciduous model comparisons were significant, while pleiotropy was indicated for one third of permanent trait pairs. Canine characters stood out as strongly integrated, especially in the deciduous dentition. For homologous characters across dentitions (e.g., deciduous i 1 shoveling and permanent I 1 shoveling), ∼70% of model comparisons yielded significant genetic correlations., Conclusions: Patterns of genetic correlation suggest a morphological canine module that spans the primary and secondary dentition. Results also point to the existence of a genetic mechanism conserving morphology across the diphyodont dental complex, such that paired deciduous and permanent traits are more strongly integrated than characters within individual tooth rows/teeth., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Objectives: The objective of this study was to revisit the topic of compensatory interactions between maxillary anterior teeth during development advanced by Sofaer et al. (1971). We addressed the hypotheses listed by Sofaer and colleagues using data derived from our Australian twin sample to investigate whether final tooth size in permanent maxillary central incisors and canines showed evidence of developmental compensation for adjacent missing or microdont lateral incisors. Such compensation is one factor interacting in the complex system of dental development., Materials and Methods: A 2D image analysis system was used to measure crown height from the labial view, labiopalatal crown width from the incisal view, and mesiodistal crown width from both the labial (MDl) and incisal (MDi) views of the permanent maxillary central incisors and canines on the dental study model of twins enrolled in a longitudinal study of dental development., Results: Developmental variations of maxillary lateral incisors influence the morphogenesis of the adjacent teeth. For example, individuals with one missing lateral incisor and one lateral incisor of average dimensions, had significantly larger central incisors than the control group for the MDl and MDi dimensions (p < 0.05). Of the 7 monozygotic twin pairs, 6 were discordant in maxillary anterior hypodontia and microdontia, and 13 out of 14 dizygotic twin pairs were discordant., Conclusions: This study provides further evidence of developmental interactions in the maxillary anterior region, partially supporting Sofaer and colleagues' hypotheses. These interactions are part of a complex adaptive system involving genetic, epigenetic and environmental factors., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Objective: The associations seen clinically between variations in tooth number, size and shape reflect the repetitive genetic interactions occurring between the epithelium and mesenchyme during the initiation and morphogenetic stages of the Complex Adaptive System that is dental development. The aim of this study was to investigate the clinical relationship further by comparing multiple crown parameters, including cusp numbers, between patients with mild hypodontia and controls in a Romanian sample., Design: Digital images of dental casts of the permanent dentition from 28 patients with mild hypodontia and 28 controls were used. Measurements from the vestibular and occlusal surfaces were performed using a 2D image analysis method and cusps, including the Carabelli trait, were counted. Two-way analysis of variance was performed., Results: The dimensions of the mild hypodontia group had smaller values than the controls, with many measurements being significantly different (significance values varied from p=0.049 to p=0.001). The most affected regions were the upper and lower anterior region in both sexes. Mesio-distal, bucco-lingual and occlusal area and perimeter dimensions were affected. Females from the hypodontia group had significantly less tricuspidated lower premolars when compared with the control group. Carabelli cusps were present in the hypodontia group less frequently, the difference being highly significant (p=0.0002) in women., Conclusions: The hypodontia patients presented with reduced crown dimensions and shape compared with controls. This is the first published study to demonstrate smaller cusp numbers in patients with hypodontia than in controls. The findings are compatible with a model of dental development as a Complex Adaptive System incorporating associations between tooth number, size and shape., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

Objective: The aim of this study was to investigate the prevalence of selected dental variations in association with infraocclusion, as well as determining the effects of infraocclusion on dental development and tooth size, in singletons and twins., Design: Two samples were analysed. The first sample comprised 1454 panoramic radiographs of singleton boys and girls aged 8-11 years. The second sample comprised dental models of 202 pairs of monozygotic and dizygotic twins aged 8-11 years. Adobe Photoshop CS5 was used to construct reference lines and measure the extent of infraocclusion (in mm) of primary molars on the panoramic radiographs and on 2D images obtained from the dental models. The panoramic radiographs were examined for the presence of selected dental variations and to assess dental development following the Demirjian and Willems systems. The twins' dental models were measured to assess mesiodistal crown widths., Results: In the singleton sample there was a significant association of canines in an altered position during eruption and the lateral incisor complex (agenesis and/or small tooth size) with infraocclusion (P<0.001), but there was no significant association between infraocclusion and agenesis of premolars. Dental age assessment revealed that dental development was delayed in individuals with infraocclusion compared to controls. The primary mandibular canines were significantly smaller in size in the infraoccluded group (P<0.05)., Conclusion: The presence of other dental variations in association with infraocclusion, as well as delayed dental development and reduced tooth size, suggests the presence of a pleiotropic effect. The underlying aetiological factors may be genetic and/or epigenetic., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

This paper reviews the concept of morphogenetic fields within the dentition that was first proposed by Butler (Butler PM. Studies of the mammalian dentition. Differentiation of the post-canine dentition. Proc Zool Soc Lond B 1939;109:1-36), then adapted for the human dentition by Dahlberg (Dahlberg AA. The changing dentition of man. J Am Dent Assoc 1945;32:676-90; Dahlberg AA. The dentition of the American Indian. In: Laughlin WS, editor. The Physical Anthropology of the American Indian. New York: Viking Fund Inc.; 1951. p. 138-76). The clone theory of dental development, proposed by Osborn (Osborn JW. Morphogenetic gradients: fields versus clones. In: Butler PM, Joysey KA, editors Development, function and evolution of teeth. London: Academic Press, 1978. p. 171-201), is then considered before these two important concepts are interpreted in the light of recent findings from molecular, cellular, genetic and theoretical and anthropological investigation. Sharpe (Sharpe PT. Homeobox genes and orofacial development. Connect Tissue Res 1995;32:17-25) put forward the concept of an odontogenic homeobox code to explain how different tooth classes are initiated in different parts of the oral cavity in response to molecular cues and the expression of specific groups of homeobox genes. Recently, Mitsiadis and Smith (Mitsiadis TA, Smith MM. How do genes make teeth to order through development? J Exp Zool (Mol Dev Evol) 2006; 306B:177-82.) proposed that the field, clone and homeobox code models could all be incorporated into a single model to explain dental patterning. We agree that these three models should be viewed as complementary rather than contradictory and propose that this unifying view can be extended into the clinical setting using findings on dental patterning in individuals with missing and extra teeth. The proposals are compatible with the unifying aetiological model developed by Brook (Brook AH. A unifying aetiological explanation for anomalies of tooth number and size. Archs Oral Biol 1984;29:373-78) based on human epidemiological and clinical findings. Indeed, this new synthesis can provide a sound foundation for clinical diagnosis, counselling and management of patients with various anomalies of dental development as well as suggesting hypotheses for future studies.

Aims: In studying aetiological interactions of genetic, epigenetic and environmental factors in normal and abnormal developments of the dentition, methods of measurement have often been limited to maximum mesio-distal and bucco-lingual crown diameters, obtained with hand-held calipers. While this approach has led to many important findings, there are potentially many other informative measurements that can be made to describe dental crown morphology. Advances in digital imaging and computer technology now offer the opportunity to define and measure new dental phenotypes in 3-D that have the potential to provide better anatomical discrimination and clearer insights into the underlying biological processes in dental development. Over recent years, image analysis in 2-D has proved to be a valuable addition to hand-measurement methods but a reliable and rapid 3-D method would increase greatly the morphological information obtainable from natural teeth and dental models. Additional measurements such as crown heights, surface contours, actual surface perimeters and areas, and tooth volumes would maximise our ability to discriminate between samples and to explore more deeply genetic and environmental contributions to observed variation. The research objectives were to investigate the limitations of existing methodologies and to develop and validate new methods for obtaining true 3-D measurements, including curvatures and volumes, in order to enhance discrimination to allow increased differentiation in studies of dental morphology and development. The validity of a new methodology for the 3-D measurement of teeth is compared against an established 2-D system. The intra- and inter-observer reliability of some additional measurements, made possible with a 3-D approach, are also tested., Methods and Results: From each of 20 study models, the permanent upper right lateral and upper left central incisors were separated and imaged independently by two operators using 2-D image analysis and a 3-D image analysis system. The mesio-distal (MD), labio-lingual (LL) and inciso-gingival (IG) dimensions were recorded using our 2-D system and the same projected variables were also recorded using a newly developed 3-D system for comparison. Values of Pearson's correlation coefficient between measurements obtained using the two techniques were significant at the 0.01 probability level for variables mesio-distal and incisal-gingival with labio-lingual significant at the 0.05 level for the upper left side only, confirming their comparability. For both 2-D and 3-D systems the intra- and inter-operator reliability was substantial or excellent for variables mesio-distal, labio-lingual, incisal-gingival actual and projected and actual surface area. The reliability was good for inter-operator reliability measurement of the labio-lingual dimension using 3-D., Conclusions: We have developed a new 3-D laser scanning system that enables additional dental phenotypes to be defined. It has been validated against an established 2-D system and shown to provide measurements with excellent reliability, both within and between operators. This new approach provides exciting possibilities for exploring normal and abnormal variations in dental morphology and development applicable to research on genetic and environmental factors.

Utilising data derived from twins and their families, different approaches can be applied to study genetic and environmental influences on human dental variation. The different methods have advantages and limitations and special features of the twinning process are important to consider. Model-fitting approaches have shown that different combinations of additive genetic variance (A), non-additive genetic variance (D), common environmental variance (C), and unique environmental variance (E) contribute to phenotypic variation within the dentition, reflecting different ontogenetic and phylogenetic influences. Epigenetic factors are also proposed as important in explaining differences in the dentitions of monozygotic co-twins. Heritability estimates are high for most tooth size variables, for Carabelli trait and for dental arch dimensions, moderate for intercuspal distances, and low for some occlusal traits. In addition to estimating the contributions of unmeasured genetic and environmental influences to phenotypic variation, structural equation models can also be used to test the effects of measured genetic and environmental factors. Whole-genome linkage analysis, association analysis of putative candidate genes, and whole genome association approaches, now offer exciting opportunities to locate key genes involved in human dental development.

Objective: Identifying the patterning of congenitally absent teeth will contribute to understanding the aetiology of hypodontia. The aim of this study was to investigate patterns of hypodontia in a group of young adults in Sheffield, UK involving specific tooth types, gender differences and maxilla:mandible and left:right correlations., Methods: The patients were 198 unrelated Caucasian young adults (86 males and 112 females) with non-syndromic hypodontia. Statistical methods included the multivariate techniques of cluster analysis and principal components analysis and associated display devices of circular dotplots and biplots. Autologistic regression was used to model the relationship of the presence or absence of a particular tooth to the status of other teeth., Results: The results revealed distinct patterns of dependence. Common patterns included either third molars and second premolars missing in all quadrants and/or combinations of these two tooth types and the incisors. The gender of the patient and the severity of hypodontia did not have a significant effect on patterns of tooth type absence. If a tooth was missing, the odds ratios that the same tooth type in the horizontally or vertically opposite quadrant was also missing were some 20 times higher than if the tooth was present. For diagonally opposite quadrants the dependence was much weaker., Conclusions: These statistical techniques are valuable for increasing understanding of hypodontia and identifying groups of patients for genetic studies.

Objective: Fluctuating dental asymmetry as an indication of the effect of environmental insults during tooth development requires further investigation. The aim of this study was to assess asymmetry in tooth crown dimension for the increased range of parameters possible with image analysis compared to previous manual measurements., Methods: Study models of 25 male and 25 female white Caucasian subjects were measured from buccal and occlusal views to determine mesio-distal, bucco-lingual, occluso-gingival and tooth surface area dimensions using image analysis. Method errors were assessed by the repeatability coefficient RC and asymmetry assessed calculating intra-class correlation coefficients between pairs of antimere teeth., Results: The method errors calculated using RC were small. There was a high degree of symmetry with correlation coefficients with a range of 0.67-0.96 for linear measurements and 0.80-0.97 for tooth surface areas. No significant differences were found between the genders or between the upper and lower jaws. Asymmetry tended to follow a pattern in morphogenic tooth fields with the mesial tooth showing greater symmetry than the more distal. There were differences in the degree of symmetry among the variables measured with the mesio-distal dimension showing the greatest symmetry., Conclusions: This new technique was reliable and readily applicable, providing also a greater range of measurements. While the asymmetry generally followed a similar pattern to earlier manual studies, there were variations in the degree of symmetry between different parameters.