Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes—PRDM16, PAX3, TP63, C5orf50, and COL17A1—in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.

BackgroundArtifacts caused by dental restorations, such as dental crowns, dental fillings and orthodontic appliances, are a common problem in MRI and CT scans of the head and neck. The aim of this in-vitro study was to identify and evaluate the artifacts produced by different dental restoration materials in CT and MRI images.MethodsTest samples of 44 materials (Metal and Non-Metal) commonly used in dental restorations were fabricated and embedded with reference specimens in gelatin moulds. MRI imaging of 1.5T and CT scan were performed on the samples and evaluated in two dimensions. Artifact size and distortions were measured using a digital image analysis software.ResultsIn MRI, 13 out of 44 materials produced artifacts, while in CT 41 out of 44 materials showed artifacts. Artifacts produced in both MRI and CT images were categorized according to the size of the artifact.SignificanceMetal based restoration materials had strong influence on CT and less artifacts in MRI images. Rare earth elements such as Ytterbium trifluoride found in composites caused artifacts in both MRI and CT. Recognizing these findings would help dental materials manufacturers and developers to produce materials which can cause less artifacts in MRI and CT images.

Using 3D anatomical landmarks from adult human head MRIs, we assessed the magnitude of inter-operator differences in Procrustes-based geometric morphometric analyses. An in depth analysis of both absolute and relative error was performed in a subsample of individuals with replicated digitization by three different operators. The effect of inter-operator differences was also explored in a large sample of more than 900 individuals. Although absolute error was not unusual for MRI measurements, including bone landmarks, shape was particularly affected by differences among operators, with up to more than 30% of sample variation accounted for by this type of error. The magnitude of the bias was such that it dominated the main pattern of bone and total (all landmarks included) shape variation, largely surpassing the effect of sex differences between hundreds of men and women. In contrast, however, we found higher reproducibility in soft-tissue nasal landmarks, despite relatively larger errors in estimates of nasal size. Our study exemplifies the assessment of measurement error using geometric morphometrics on landmarks from MRIs and stresses the importance of relating it to total sample variance within the specific methodological framework being used. In summary, precise landmarks may not necessarily imply negligible errors, especially in shape data; indeed, size and shape may be differentially impacted by measurement error and different types of landmarks may have relatively larger or smaller errors. Importantly, and consistently with other recent studies using geometric morphometrics on digital images (which, however, were not specific to MRI data), this study showed that inter-operator biases can be a major source of error in the analysis of large samples, as those that are becoming increasingly common in the 'era of big data'.

Aim We aimed to investigate associations between malocclusions and periodontal disease by comparing it to that of smoking in subjects recruited from the population‐based cross‐sectional study “Study of Health in Pomerania.” Materials and Methods Sagittal intermaxillary relationship, variables of malocclusion and socio‐demographic parameters of 1,202 dentate subjects, 20–39 years of age, were selected. Probing depth (PD) and attachment loss (AL) were assessed at four sites by tooth in a half‐mouth design. Analyses were performed with multilevel models on subject, jaw and tooth level. Results Distal occlusion determined in the canine region, ectopic position of canines, anterior spacing, deep anterior overbite and increased sagittal overjet were associated with AL (p‐value <0.05). Associations between malocclusions and PD: deep anterior overbite with gingival contact (odds ratio [OR] = 1.40, 95% CI: 1.08–1.82; p‐value = 0.0101) and anterior crossbite (OR = 1.75, 95% CI: 1.29–2.38; p‐value = 0.0003). Regarding crowding, only severe anterior crowding was compatible with a moderate to large association with PD (OR = 1.93, 95% CI: 0.89–4.20). Compared to smoking, the overall effect of malocclusions was about one half for AL and one‐third for PD. Conclusion Malocclusions or morphologic parameters were associated with periodontal disease.

BackgroundThis study was carried out as a prospective clinical field study with the aim of evaluating the clinical performance of Equia Fil® with a nanofilled resin coating and the conventional Fuji IX GP® fast with an LC coating according to the World Dental Federation (FDI) restoration material evaluation criteria.MethodsThe clinical performance of Equia Fil® and Fuji IX GP® fast was evaluated on permanent posterior teeth of 643 adult patients aged between 20 to 80 years old in randomly selected clinics across Germany. Occlusal cavities in posterior permanent teeth were restored with Equia Fil® with a nanofilled, light-cured resin coating (n = 515) and Fuji IX GP® fast with an LC coating (n = 486). Direct clinical assessment as well as photographic assessment and assessment of stone casts of the restorations were made at 1 year, 2 years, 3 years, and 4 years.ResultsIn 4 years, a total of 1001 fillings from both materials were placed by 111 dentists in 643 patients. Random slope models showed that the Equia filling system had overall lower odds of obtaining a delta event (material needs replacement) in comparison to Fuji IX GP® fast with an LC coating within all models. In both materials, filling size/surface was the most important component affecting the clinical performance of the materials. When measuring the odds of obtaining a delta event (material needs replacement), the odds ratios jumped to approximately 43 and 296 times for class II (two surfaces) and class II mesial-occlusal-distal (three surfaces) respectively in comparison to class I fillings.ConclusionBoth materials showed similar good overall performance in class I cavities; however, when including numbers from both class I and II fillings, the Equia system with a nanofilled resin coating showed better overall performance with fewer failures in all the follow-up intervals. Nonetheless, the percentage of unsatisfactory to poor fillings according to the FDI criteria was relatively high in two-surface class II fillings and higher in three-surface class II fillings for both materials.Trial registrationDeutsches Register Klinischer Studien (German Clinical Trials Register): DRKS00004220. (www.germanctr.de). Registration date: 6 Sept 2012.Electronic supplementary materialThe online version of this article (doi:10.1186/s13063-016-1339-8) contains supplementary material, which is available to authorized users.

ObjectiveThe purpose of this study was to determine the accuracy and reliability of Frankfort horizontal plane identification using displays of multi-planar reconstructed MRI images, and propose it as a sufficiently stable and standardized reference plane for craniofacial structures.Materials and MethodsMRI images of 43 subjects were obtained from the longitudinal population based cohort study SHIP-2 using a T1-weighted 3D sequence. Five examiners independently identified the three landmarks that form FH plane. Intra-examiner reproducibility and inter-examiner reliability, correlation coefficients (ICC), coefficient of variability and Bland-Altman plots were obtained for all landmarks coordinates to assess reproducibility. Intra-examiner reproducibility and inter-examiner reliability in terms of location and plane angulation were also assessed.ResultsIntra- and inter-examiner reliabilities for X, Y and Z coordinates of all three landmarks were excellent with ICC values ranging from 0.914 to 0.998. Differences among examiners were more in X and Z than in Y dimensions. The Bland–Altman analysis demonstrated excellent intra- as well as inter-examiner agreement between examiners in all coordinates for all landmarks. Intra-examiner reproducibility and inter-examiner reliability of the three landmarks in terms of distance showed mean differences between 1.3 to 2.9 mm, Mean differences in plane angulation were between 1.0° to 1.5° among examiners.ConclusionThis study revealed excellent intra-examiner reproducibility and inter-examiner reliability of Frankfort Horizontal plane through 3D landmark identification in MRI. Sufficiently stable landmark-based reference plane could be used for different treatments and studies.

Our findings suggest that age has a heterogeneous effect on masticatory muscles. This indicates that age related changes to the masticatory muscles are muscle specific and are not consistent between the different muscles.

This study revealed craniofacial morphology, specifically the cranial width and the facial index, as a putative risk factor for periodontal loss of attachment.