Dataset Information

Phenotype-genotype correlations of facial width and height proportions in patients with Class II malocclusion.

ABSTRACT: To characterize soft-tissue facial height and width variation in Class II malocclusion and test for correlations with genes HMGA2, AJUBA, and ADK.Nine facial proportions were estimated from 2D frontal repose photographs of 330 Caucasian adults with Class II malocclusion.After adjustments for age and gender, the facial proportions were submitted to a principal component analyses (PCA). The most meaningful phenotypic variations were correlated with SNPs rs7924176 (ADK), rs17101923 (HMGA2), and rs997154 (AJUBA) genotyped in 106 individuals.Principal component analyses resulted in four principal components (PCs), which explained 75% of total variation. PC1 captured variation in the intercanthus distance and explained 28% of total variation. PC2 explained 21% of the variations in facial taper and facial index. PC3 explained 14% and reflected variations in the vertical dimension of the lower face. PC4 explained 12% and captured variations in distance between the eyes, width of the commissures, and the length of the superior aspect of the lower face height corresponding to the vertical dimension of the philtrum of the upper lip. A suggestive association (p<0.05) was observed between PC4 and rs997154 corroborating the role of AJUBA in variation of facial dimensions.2D frontal photographs can be used to derive quantitative measures of soft-tissue phenotypes that are of clinical relevance. The methods described are suitable for discovery and replication of associations between genotypes and malocclusion phenotypes.

SUBMITTER: Moreno Uribe LM

PROVIDER: S-EPMC4396710 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature

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Phenotype-genotype correlations of facial width and height proportions in patients with Class II malocclusion.

Moreno Uribe L M LM Ray A A Blanchette D R DR Dawson D V DV Southard T E TE

Orthodontics & craniofacial research 20150401

<h4>Objectives</h4>To characterize soft-tissue facial height and width variation in Class II malocclusion and test for correlations with genes HMGA2, AJUBA, and ADK.<h4>Setting and sample population</h4>Nine facial proportions were estimated from 2D frontal repose photographs of 330 Caucasian adults with Class II malocclusion.<h4>Material and methods</h4>After adjustments for age and gender, the facial proportions were submitted to a principal component analyses (PCA). The most meaningful phenot ...[more]

PMID: 25865538

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Project description:Background. In recent years, researchers have investigated the relationship between facial width-to-height ratio (FWHR) and a variety of threat and dominance behaviours. The majority of methods involved measuring FWHR from 2D photographs of faces. However, individuals can vary dramatically in their appearance across images, which poses an obvious problem for reliable FWHR measurement. Methods. I compared the effect sizes due to the differences between images taken with unconstrained camera parameters (Studies 1 and 2) or varied facial expressions (Study 3) to the effect size due to identity, i.e., the differences between people. In Study 1, images of Hollywood actors were collected from film screenshots, providing the least amount of experimental control. In Study 2, controlled photographs, which only varied in focal length and distance to camera, were analysed. In Study 3, images of different facial expressions, taken in controlled conditions, were measured. Results. Analyses revealed that simply varying the focal length and distance between the camera and face had a relatively small effect on FWHR, and therefore may prove less of a problem if uncontrolled in study designs. In contrast, when all camera parameters (including the camera itself) are allowed to vary, the effect size due to identity was greater than the effect of image selection, but the ranking of the identities was significantly altered by the particular image used. Finally, I found significant changes to FWHR when people posed with four of seven emotional expressions in comparison with neutral, and the effect size due to expression was larger than differences due to identity. Discussion. The results of these three studies demonstrate that even when head pose is limited to forward facing, changes to the camera parameters and a person's facial expression have sizable effects on FWHR measurement. Therefore, analysing images that fail to constrain some of these variables can lead to noisy and unreliable results, but also relationships caused by previously unconsidered confounds.

Dataset Information

Phenotype-genotype correlations of facial width and height proportions in patients with Class II malocclusion.

Publications

Phenotype-genotype correlations of facial width and height proportions in patients with Class II malocclusion.

Similar Datasets

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