Genetic Correlation, Pleiotropy, and Molar Morphology in a Longitudinal Sample of Australian Twins and Families.

This study aims to expand our understanding of the genetic architecture of crown morphology in the human diphyodont dentition. Here, we present bivariate genetic correlation estimates for deciduous and permanent molar traits and evaluate the patterns of pleiotropy within (e.g., m1-m2) and between (e.g., m2-M1) dentitions. Morphology was observed and scored from dental models representing participants of an Australian twin and family study (deciduous n = 290, permanent n = 339). Data collection followed Arizona State University Dental Anthropology System standards. Genetic correlation estimates were generated using maximum likelihood variance components analysis in SOLAR v.8.1.1. Approximately 23% of deciduous variance components models and 30% of permanent variance components models yielded significant genetic correlation estimates. By comparison, over half (56%) of deciduous-permanent homologues (e.g., m2 hypocone-M1 hypocone) were significantly genetically correlated. It is generally assumed that the deciduous and permanent molars represent members of a meristic molar field emerging from the primary dental lamina. However, stronger genetic integration among m2-M1/M2 homologues than among paired deciduous traits suggests the m2 represents the anterior-most member of a "true" molar field. The results indicate genetic factors act at distinct points throughout development to generate homologous molar form, starting with the m2, which is later replaced by a permanent premolariform crown.

The genetic architecture of anterior tooth morphology in a longitudinal sample of Australian twins and families.

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 i1 shoveling and permanent I1 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.

Patterns of heritability across the human diphyodont dental complex: Crown morphology of Australian twins and families.

OBJECTIVES: This study generates a series of narrow-sense heritability estimates for crown morphology of the deciduous and permanent dentition with two overarching aims. The first is to test the hypothesis that deciduous teeth provide a more faithful reflection of genetic information than their permanent successors. The second is to use quantitative genetic methods to evaluate assumptions underlying common data collection and analysis practices in biodistance research. MATERIALS AND METHODS: Dental morphology data were collected from longitudinal dental casts representing Australian twins and families using Arizona State Dental Anthropology System standards. Polygenic models and estimates of narrow-sense heritability were generated using SOLAR v.8.1.1. Each model considered age, sex, and age/sex interaction as covariates. RESULTS: Heritability estimates significantly differed from zero for the majority of morphological crown characters. Most estimates fell within the 0.4-0.8 range typically observed for crown morphology. Mean heritability was stable across the dental complex, but for paired homologues, permanent traits often yielded higher estimates than their deciduous counterparts. Results indicate directional asymmetry in environmental influence for crown morphology and inform biodistance "best practices" related to data collection and treatment. CONCLUSIONS: Overall, results for this sample support the use of crown morphology as a proxy for genetic variation in evolutionary research. This includes the deciduous dentition, which justifies the expansion of efforts to incorporate subadults into reconstructions of past microevolutionary processes. Results do not indicate that deciduous phenotypes more closely approximate underlying genotype, at least for deciduous/permanent homologues.

Compensatory interactions between developing maxillary anterior teeth in a sample of twins.

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.

Technical note: The use of 3D printing in dental anthropology collections.

OBJECTIVES: Rapid prototyping (RP) technology is becoming more affordable, faster, and is now capable of building models with a high resolution and accuracy. Due to technological limitations, 3D printing in biological anthropology has been mostly limited to museum displays and forensic reconstructions. In this study, we compared the accuracy of different 3D printers to establish whether RP can be used effectively to reproduce anthropological dental collections, potentially replacing access to oftentimes fragile and irreplaceable original material. METHODS: We digitized specimens from the Yuendumu collection of Australian Aboriginal dental casts using a high-resolution white-light scanning system and reproduced them using four different 3D printing technologies: stereolithography (SLA); fused deposition modeling (FDM); binder-jetting; and material-jetting. We compared the deviations between the original 3D surface models with 3D print scans using color maps generated from a 3D metric deviation analysis. RESULTS: The 3D printed models reproduced both the detail and discrete morphology of the scanned dental casts. The results of the metric deviation analysis demonstrate that all 3D print models were accurate, with only a few small areas of high deviations. The material-jetting and SLA printers were found to perform better than the other two printing machines. CONCLUSIONS: The quality of current commercial 3D printers has reached a good level of accuracy and detail reproduction. However, the costs and printing times limit its application to produce large sample numbers for use in most anthropological studies. Nonetheless, RP offers a viable option to preserve numerically constraint fragile skeletal and dental material in paleoanthropological collections.

A simple rule governs the evolution and development of hominin tooth size.

The variation in molar tooth size in humans and our closest relatives (hominins) has strongly influenced our view of human evolution. The reduction in overall size and disproportionate decrease in third molar size have been noted for over a century, and have been attributed to reduced selection for large dentitions owing to changes in diet or the acquisition of cooking. The systematic pattern of size variation along the tooth row has been described as a 'morphogenetic gradient' in mammal, and more specifically hominin, teeth since Butler and Dahlberg. However, the underlying controls of tooth size have not been well understood, with hypotheses ranging from morphogenetic fields to the clone theory. In this study we address the following question: are there rules that govern how hominin tooth size evolves? Here we propose that the inhibitory cascade, an activator-inhibitor mechanism that affects relative tooth size in mammals, produces the default pattern of tooth sizes for all lower primary postcanine teeth (deciduous premolars and permanent molars) in hominins. This configuration is also equivalent to a morphogenetic gradient, finally pointing to a mechanism that can generate this gradient. The pattern of tooth size remains constant with absolute size in australopiths (including Ardipithecus, Australopithecus and Paranthropus). However, in species of Homo, including modern humans, there is a tight link between tooth proportions and absolute size such that a single developmental parameter can explain both the relative and absolute sizes of primary postcanine teeth. On the basis of the relationship of inhibitory cascade patterning with size, we can use the size at one tooth position to predict the sizes of the remaining four primary postcanine teeth in the row for hominins. Our study provides a development-based expectation to examine the evolution of the unique proportions of human teeth.

Sex determination from fingerprint ridge density and white line counts in Filipinos.

Fingerprints are distinct physical characteristics that remain unchanged throughout an individual's lifetime. This study derived Filipino-specific probability formulae from fingerprints to be used for sex discrimination in human identification cases. Ridge density from three different areas - distal radial area, distal ulnar area, and proximal area - as well as white line counts from fingerprints of 200 male and 200 female Filipinos were collected and analyzed statistically. Ridge densities of radial and ulnar areas emerged as displaying significant differences between the sexes, with 16ridges/25mm(2) or more in radial area and 15ridges/25mm(2) or more in ulnar area being more likely to be female, whereas 13ridges/25mm(2) or less in radial area and 12ridges/25mm(2) or less in ulnar area were more likely to be male. A white line count of 0 was more likely to be male while a white line count of 2 or more was more likely to be female. The results of this study show sex differences in Filipino fingerprints and support the observation of previous studies that females have finer ridges than males.

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

OBJECTIVES: A priority research area in minimal intervention dentistry is the characterization of the early stages of dental erosion. The aim of this in vitro study was to assess the effect of short, repetitive erosive challenges to human enamel over 2 min at pH 1.5 and 3.0 under conditions simulating gastric regurgitation. METHODS: Enamel surfaces were subjected to erosive challenges at pH 1.5 (Group 1, n=10) and pH 3.0 (Group 2, n=9) for periods of 30s (stage 1), 60s (stage 2) and 120 s (stage 3). Quantitative changes were assessed longitudinally by measuring the 3D average surface roughness (Sa) values using 3D confocal microscopy. Qualitative micrographic assessment of surface changes was also conducted by using environmental scanning electron microscopy. RESULTS: Linear mixed model analysis showed significant effects of the pH values (p<0.001) and the stages (p<0.001) on the observed Sa values. Post hoc tests showed significant increases in the Sa values between baseline and other stages in both groups (p<0.01). The mean Sa values also increased significantly from stage 1 to stage 2 in Group 1 (p<0.05). Micrographic analysis displayed severely etched enamel rods in Group 1, but only subtle changes in Group 2. CONCLUSIONS: The complexity of the enamel surface is influenced by both acid concentration (pH value) and duration of acid exposure during early stages of erosion. Erosion occurring under conditions simulating GORD can be detected in its initial stages, opening up the possibilities of early diagnosis and management of this condition. CLINICAL SIGNIFICANCE: Erosive tooth wear occurs progressively and insidiously, often creating complex treatment challenges. This emphasizes the need for early diagnosis and management in accordance with minimal intervention philosophy. Our findings provide a foundation for further research that could lead to the development of highly-sensitive clinical diagnostic tools and preventive strategies.

Applied anatomy of the lingual nerve: relevance to dental anaesthesia.

OBJECTIVES: (1) to classify the external morphology of the lingual nerve and investigate any relationship between its external and internal morphology, (2) to explore the fascicular structure, nerve tissue density and capillary density of the lingual nerve, and (3) to provide an anatomical explanation as to why adverse clinical outcomes more commonly affect the lingual nerve following local dental anaesthesia. Where possible, comparisons were made between the lingual and inferior alveolar nerves. MATERIALS AND METHODS: The lingual and inferior alveolar nerves were examined in 23 hemi-sectioned heads macroscopically and microscopically 2mm above the lingula. The lingual nerve was also examined in the regions of the third and second molars. Specimens underwent histological processing and staining with Haematoxylin & Eosin, Masson's Trichrome, anti-GLUT-1 and anti-CD 34. RESULTS: The lingual nerve became flatter as it traversed through the pterygomandibular space. There was an increase in the connective tissue and a decrease in nerve tissue density along the lingual nerve (p<0.001). At 2mm above the lingula, the lingual nerve was uni-fascicular in 39% of cases, whilst the inferior alveolar nerve consistently had more fascicles (p<0.001). The lingual nerve fascicles had thicker perineurium but the endoneurial vascular density was not significantly different in the two nerves. CONCLUSIONS: The greater susceptibility of lingual nerve dysfunction during inferior alveolar nerve blocks may be due to its uni-fascicular structure and the thicker perineurium, leading to increased endoneurial pressure and involvement of all axons if oedema or haemorrhage occurs due to trauma.

Odontometric sex variation in Malaysians with application to sex prediction.

Information about the sex of individuals is important for human identification. This study was conducted to quantify classification rates of sex prediction models for Malaysians using odontometric profiles. Mesiodistal (MD) and buccolingual (BL) crown dimensions of the permanent dentition were studied in 400 young adult Malaysians, giving a total of 28 tooth size variables. The sample consisted of three major ethnic groups, the Malays, Chinese and Tamils, since the aim was to assess sex dimorphism in Malaysians as a whole. Results showed that the mesiodistal diameter of the lower canine was the most sexually dimorphic dimension in Malaysian Malays and Tamils. Univariate analyses showed that the magnitude and pattern of sex dimorphism varies between these three ethnic groups, with Malaysian Chinese and Tamils being more dimorphic than the Malaysian Malays. Stepwise discriminant functions were generated bearing in mind their application in practical forensic situations. The range of classification rates was from 70.2% to 78.5% for the composite Malaysian group, and 83.8%, 77.9%, 72.4% for Malaysian Chinese, Malays and Tamils, respectively. The 'Area Under the Receiver Operating Characteristic Curve statistics' indicated good classification rates for three prediction models obtained using a combination of all tooth size variables, mandibular teeth, and mesiodistal dimensions in the composite Malaysian group, and for all tooth size variables in each ethnic group. The present study provides strong support for the value of odontometry as an adjunct scientific method for sex prediction in human identification.

Dento-facial relationships in individuals with normal occlusion.

The aim of this study was to evaluate the relationships of selected facial measurements with mesio-distal crown widths and dental arch dimensions in individuals with normal occlusions. A cross-sectional study was conducted on 276 subjects with Angle's Class I normal occlusions. Three-dimensional images of the face and dental casts were captured and analyzed using stereophotogrammetric systems. Significant correlations were found between the sagittal facial variables and both upper and lower dental arch dimensions and to lesser degree with the horizontal and vertical variables. The values of correlation coefficients calculated between facial and dental crown measurements ranged from .01 to .50 for upper teeth and .01 to .49 for lower teeth. The values of correlation coefficients between facial and upper dental arch dimensions ranged from .01 to .55 and those between facial and lower dental arch dimensions ranged from .01 to .60. A principal components analysis showed that the sagittal dimensions, face height, nose, labial fissure, binocular widths were positively associated with dental arch dimensions and mesio-distal crown diameters in males. On the other hand, only the sagittal variables were associated with dental dimensions in females. The results of this study confirm that positive associations exist between facial and dental arch dimensions. These relationships should be taken into consideration when attempts are made to modify dental arch size as part of orthodontic treatment. Moreover, these relationships are also relevant to prosthodontists involved with selecting tooth sizes that display optimal functional balance with the craniofacial structures.

Genetic, epigenetic, and environmental influences on dentofacial structures and oral health: ongoing studies of Australian twins and their families.

The Craniofacial Biology Research Group in the School of Dentistry at The University of Adelaide is entering an exciting new phase of its studies of dental development and oral health in twins and their families. Studies of the teeth and faces of Australian twins have been continuing for nearly 30 years, with three major cohorts of twins recruited over that time, and currently we are working with twins aged 2 years old to adults. Cross-sectional data and records relating to teeth and faces of twins are available for around 300 pairs of teenage twins, as well as longitudinal data for 300 pairs of twins examined at three different stages of development, once with primary teeth, once at the mixed dentition stage, and then again when the permanent teeth had emerged. The third cohort of twins comprises over 600 pairs of twins recruited at around birth, together with other family members. The emphasis in this third group of twins has been to record the timing of emergence of the primary teeth and also to sample saliva and dental plaque to establish the timing of colonization of decay-forming bacteria in the mouth. Analyses have confirmed that genetic factors strongly influence variation in timing of primary tooth emergence. The research team is now beginning to carry out clinical examinations of the twins to see whether those who become colonized earlier with decay-forming bacteria develop dental decay at an earlier age. By making comparisons within and between monozygotic (MZ) and dizygotic (DZ) twin pairs and applying modern molecular approaches, we are now teasing out how genetic, epigenetic, and environmental factors interact to influence dental development and also oral health.

Validity and reliability of tooth size and dental arch measurements: a stereo photogrammetric study.

BACKGROUND: The development of three-dimensional computer imaging has many applications in dentistry, including the analysis of dental casts. AIMS: To assess the validity and reliability of a dental stereophotogrammetric imaging system. METHODS: The sample consisted of 35 sets of dental costs. Maxillary and mandibular dental crown widths and selected dental arch dimensions were measured directly using digital calipers. Cast images were also captured by a stereophotogrammetric system and analysed using Australis software. Dahlberg's formula, paired t-tests and intra-class correlations were used to assess the random error, validity and reliability of the measurements, respectively. RESULTS: Most values demonstrated no significant difference between the direct and three-dimensional measurements with mean differences ranging from 0.05-0.21 mm. Moreover, values of intra-class correlation coefficients ranged between 0.80-0.99 for intra-examiner reliability. CONCLUSIONS: Mesiodistal crown widths and dental arch dimensions may be measured accurately with relatively small error by the specially-designed 3D system and confirms its suitability for clinical and research purposes.

Stereophotogrammetric analysis of nasolabial morphology among Asian Malays: influence of age and sex.

OBJECTIVE: It is clear that population-specific norms should be used when planning plastic and reconstructive surgery for selected patients. In this study, we aimed to generate nasal and labial reference values by applying a stereophotogrammetric technique. A further aim was to investigate the effect of sexual dimorphism, age-related changes, and the interrelation between nasal and labial morphology. DESIGN: Cross-sectional study. SETTING: The data were collected from different locations on the Malaysian peninsula. PARTICIPANTS: A total of 276 Asian Malays (138 males and 138 females) were included in this study, and a three-dimensional system was used for capturing data. The sample was divided into three age groups: 13 to 14, 15 to 17, and 18 to 36 years. MAIN OUTCOME MEASURE(S): Twenty-five dimensions of the nose and lips were measured and analyzed separately in males and females. RESULTS: Significant differences between males and females were identified in 11 distances, and significant effects of age were found in most of the dimensions (p < .05). Significant correlations between the nasal and labial dimensions were recorded, particularly between lateral lip height and width of the ala insertion. A principal component analysis showed interrelationships between the nasal width distances and upper lip height. CONCLUSION: This study has provided a new three-dimensional database for nose and lip morphology in Malays and demonstrated patterns of variation that can be used by surgeons to make comparisons within and between different human populations and also to develop treatment plans for their patients.

An anthropological perspective: another dimension to modern dental wear concepts.

For many years, research on tooth wear by dental academics has been diametrically opposite to that of anthropological research, with each discipline having a different understanding as to the nature of the wear processes. Dental focus revolved around preventive and restorative considerations while the anthropological focus was a biological understanding related to human evolution, diet, environment, form, and function and included all the craniofacial structures. Introducing the anthropological perspective into modern dentistry gives an insight into the "bigger picture" of the nature and extent of tooth wear. By combining anthropological evidence with clinical knowledge and experience, it is most likely to provide the best-informed and biologically based approach to the management of tooth wear in modern societies.

The nasopharynx in infants with cleft lip and palate.

OBJECTIVE: The purpose of this study was to use three-dimensional computed tomography data and computer imaging technology to assess the skeletal components of the naso-pharyngeal area in patients with cleft lip and palate and to quantify anatomical variations. METHODS: CT scans were obtained from 29 patients of Malay origin with cleft lip and palate aged between 0 and 12 months and 12 noncleft patients in the same age group, using a GE Lightspeed Plus Scanner housed in Hospital Universiti Sains Malaysia. Measurements were obtained using the 'Persona' three-dimensional software package, developed at Australian Craniofacial Unit, Adelaide. RESULTS: The results of the present study show that there is an increased nasopharyngeal space in cleft lip and palate that may lead to compression of the nasopharyngeal structures, including the Eustachian tube. Alterations of the medial pterygoid plate and the hamulus may lead to an alteration in the origin and orientation of the tensor veli palatini muscle leading to alteration in its function. CONCLUSIONS: These anatomical variations may compromise the dilatory mechanism of the Eustachian tube, thus leading to recurrent middle ear infections in cleft children and subsequent loss of hearing.

Timing of colonization of caries-producing bacteria: an approach based on studying monozygotic twin pairs.

Findings are presented from a prospective cohort study of timing of primary tooth emergence and timing of oral colonization of Streptococcus mutans (S. mutans) in Australian twins. The paper focuses on differences in colonization timing in genetically identical monozygotic (MZ) twins. Timing of tooth emergence was based on parental report. Colonization timing of S. mutans were established by plating samples of plaque and saliva on selective media at 3 monthly intervals and assessing colony morphology. In 25% of individuals colonization occurred prior to emergence of the first tooth. A significant proportion of MZ pairs (21%) was discordant for colonization occurring before or after first tooth emergence, suggesting a role of environmental or epigenetic factors in timing of tooth emergence, colonization by S. mutans, or both. These findings and further application of the MZ co-twin model should assist in development of strategies to prevent or delay infection with S. mutans in children.

The dead center of the dental curriculum: changing attitudes of dental students during dissection.

The purpose of this study was to investigate changes in dental students' perceptions of professionalism, knowledge, and emotion over the period of dissection in a human anatomy course. Whether human dissection needs to be a part of the modern dental curriculum is often called into question, particularly with the plethora of electronic and other aids available to support the learning of anatomy. The influence of the dissection process on development of professional attitudes and emotional maturity has been studied in medical students, but how dental students react to this part of their education is less well known. To investigate this question, a survey was administered before and after the dissection course to two sequential year groups of dental students. It was found that these students had high levels of understanding of professional values before commencing dissection and continued to value the role of teamwork in aiding their learning over the survey period. The majority of students coped well with the assimilation of knowledge and developed coping mechanisms to handle the emotional aspects of dissection. The students remained excited by and interested in dissection, and the majority valued it as the most positive aspect of their anatomy course. The students increasingly valued the use of prosected specimens as an aid to learning. This study confirmed that significant changes occur in dental students' attitudes during the period of dissection, which we believe contribute to the development of more empathetic and caring practitioners.

Enamel hypoplasia in the primary dentition of monozygotic and dizygotic twins compared with singleton controls.

BACKGROUND: The study of enamel hypoplasia (EH) and opacity in twins provides insights into the contribution of genetic and environmental factors in the expression of enamel defects. AIM: This study examined prevalence and site concordance of EH and opacity in the primary dentition of 2- to 4-year-old twins and singleton controls to assess the relative contribution of genetics and the environment to the aetiology of these defects. DESIGN: The study sample consisted of 88 twin children and 40 singletons aged 2-4 years of age. Medical histories were obtained and the children examined for enamel defects. RESULTS: The prevalence of EH by teeth was 21% in monozygotic twins (MZ), 22% in dizygotic twins (DZ), and 15% in singleton controls. Twins showed a higher prevalence of EH compared with singletons (P < 0.05). Factors contributing to increase EH in twins were neonatal complications including intubation. There were no significant differences in site concordance of EH within the MZ twin pairs compared with DZ twin pairs when only presence of EH was considered, whereas a greater concordance was noted between MZ twin pairs compared with DZ twin pairs when both presence and absence of EH were considered. CONCLUSIONS: The results suggest that both genetic and environmental factors contribute to observed variation of EH, although it is likely that environmental factors exert a greater influence.

Genetic modeling of primary tooth emergence: a study of Australian twins.

The aim of this study was to quantify contributions of genetic and environmental factors to variation in timing of emergence of the primary teeth in a sample of monozygotic and dizygotic twins, using univariate model-fitting approaches. The sample comprised 94 pairs of monozygotic twins and 125 pairs of dizygous twins, all of European ancestry, aged from 2-6 years. Tooth emergence timing was based on parental report, with a subset of data validated by clinical assessment. Heritability estimates for tooth emergence timing were generally high, around 90%, however estimates for the lower right lateral incisor and the lower canines were around 50%. These findings confirm a strong genetic influence on observed variation in the timing of emergence of the human primary teeth.