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1.
J Dent ; 141: 104799, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38056758

ABSTRACT

OBJECTIVE: To determine the incidence and site of any adverse effects of wearing face masks via an online questionnaire. METHODS: Healthcare workers in a dental hospital who wear Respiratory Protective Equipment (RPE) were invited to participate. An online questionnaire was used to identify adverse effects as a result of wearing face masks and possible remedies. RESULTS: Red marks (72.1 %) and indentations (66.7 %) were the most frequently reported issues with increased use of the RPE. The bridge of the nose and cheeks were the most frequently reported sites of facial skin problems, such as blanching (54.1 % and 42.2 %, respectively) and pressure damage (42.3 % and 24.3 %, respectively). Overall perceived facial skin health deteriorated strongly and significantly (P < 0.001) following the use of RPE, where the mean skin health score (0 = best possible skin health and 10 = worst possible skin health) increased from 2.68 to 4.76. Broadly, there was increased discomfort with increased hours of use of RPE per day (P = 0.049). 71 % of participants said that they generally felt safe or very safe using RPE. CONCLUSION: The facial skin health of respondents deteriorated strongly after the use of RPE. Guidelines for using RPE should be made clearer. A greater range of face mask sizes or bespoke masks should be made available to improve the fit and wearability, as well as to reduce the frequency and incidence of surface skin problems. CLINICAL SIGNIFICANCE: This study has identified the factors influencing adverse skin reactions from face mask use, which can be used to inform face mask designers and manufacturers to improve the fit and wearability of face masks.


Subject(s)
Face , Masks , Humans , Masks/adverse effects , Health Personnel , Delivery of Health Care , Hospitals
2.
bioRxiv ; 2023 Dec 08.
Article in English | MEDLINE | ID: mdl-38106188

ABSTRACT

Human craniofacial shape is highly variable yet highly heritable with genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the normal population. We compared three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores. Multivariate GWAS of the control scores revealed a polygenic basis for normal facial variation along an achondroplasia-specific shape axis, identifying genes primarily involved in skeletal development. Jointly modeling these genes in two independent control samples showed craniofacial effects approximating the characteristic achondroplasia phenotype. These findings suggest that both complex and Mendelian genetic variation act on the same developmentally determined axes of facial variation, providing new insights into the genetic intersection of complex traits and Mendelian disorders.

3.
bioRxiv ; 2023 Aug 14.
Article in English | MEDLINE | ID: mdl-37645810

ABSTRACT

A genome-wide association study (GWAS) of a complex, multi-dimensional morphological trait, such as the human face, typically relies on predefined and simplified phenotypic measurements, such as inter-landmark distances and angles. These measures are predominantly designed by human experts based on perceived biological or clinical knowledge. To avoid use handcrafted phenotypes (i.e., a priori expert-identified phenotypes), alternative automatically extracted phenotypic descriptors, such as features derived from dimension reduction techniques (e.g., principal component analysis), are employed. While the features generated by such computational algorithms capture the geometric variations of the biological shape, they are not necessarily genetically relevant. Therefore, genetically informed data-driven phenotyping is desirable. Here, we propose an approach where phenotyping is done through a data-driven optimization of trait heritability, defined as the degree of variation in a phenotypic trait in a population that is due to genetic variation. The resulting phenotyping process consists of two steps: 1) constructing a feature space that models shape variations using dimension reduction techniques, and 2) searching for directions in the feature space exhibiting high trait heritability using a genetic search algorithm (i.e., heuristic inspired by natural selection). We show that the phenotypes resulting from the proposed trait heritability-optimized training differ from those of principal components in the following aspects: 1) higher trait heritability, 2) higher SNP heritability, and 3) identification of the same number of independent genetic loci with a smaller number of effective traits. Our results demonstrate that data-driven trait heritability-based optimization enables the automatic extraction of genetically relevant phenotypes, as shown by their increased power in genome-wide association scans.

4.
Children (Basel) ; 10(5)2023 May 16.
Article in English | MEDLINE | ID: mdl-37238439

ABSTRACT

This study investigated the prevalence and predictors of alcohol use among school-going-age adolescents in Panama. Using a national school-based cross-sectional survey, data from a proportionate sample of school-going adolescents aged 13-17 years were obtained from the 2018 Panama Global School-based Student Health Survey [GSHS]. Data were analysed with a Pearson's Chi-square test and weighted binary logistic regression. The results were reported with their corresponding adjusted odds ratio (AOR) at a 95% confidence interval (CI) and level of significance set at p < 0.05. The prevalence of alcohol use among adolescents in Panama was 30.6%. The odds of alcohol use were lower among adolescents in a lower grade than those in upper grades, and lower in those who did not eat from a restaurant than those who ate from a restaurant. Further, the likelihood of alcohol use was significantly high among those who engaged in physical fights, were seriously injured, were mostly worried, and whose parents used any form of tobacco. Other results showed that the odds of alcohol use were high among sedentary respondents, those who had multiple sexual partners and those who used amphetamines. Based on the present findings, a collaborative approach (i.e., stakeholders- the Ministry of Social Development and the Ministry of Education- community-individual levels) towards the development and adherence of appropriate interventions aimed at reducing alcohol use is required in Panama. Specific preventive interventions would be fundamental in promoting a positive school climate to help reduce adolescents' alcohol use and, perhaps, other anti-social behaviours (e.g., physical fights and bullying).

5.
J Orthod ; 49(4): 412-419, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35796491

ABSTRACT

OBJECTIVE: To apply an automated computerised method to categorise and determine the prevalence of different types of lip traits, and to explore associations between lip traits and sex differences. DESIGN: Observational descriptive study utilising an automated method of facial assessment. SETTING AND PARTICIPANTS: A total of 4747 children from the Avon Longitudinal Study of Parents and Children (ALSPAC) who each had 3D facial scans carried out at 15 years of age. METHODS: Each of the participants was automatically categorised regarding predetermined lip morphological traits. Descriptive statistics were applied to report the prevalence of the different types of each trait, and chi-square tests were used to investigate sex differences and associations between traits. RESULTS: A total of 4730 individuals were assessed (47% male, 53% female). Eight predetermined lip traits have been reported previously. There were differences in prevalence for all lip traits in male and female patients (all P ⩽ 0.0002), with differences between the sexes described for each trait. For example, a deeply grooved philtrum of average width was more prevalent in boys, and an indentation near the upper vermilion border was more prevalent in girls. Each of the traits was significantly associated with the other traits (all P < 0.0001), with particularly strong associations seen between traits in the same region (e.g. upper lip). Individual associations between traits are reported; for example, a straight lip contour was found to be associated with no true vermilion border in both the upper and lower lip regions. CONCLUSION: The automated computerised method described is an invaluable tool for the categorisation of lip morphological traits. The prevalence of various types of traits has been described. Sexual dimorphism exists for all the lip traits assessed. Generally, each of the traits are associated with all other traits, with individual associations reported.


Subject(s)
Face , Lip , Humans , Child , Female , Male , Lip/anatomy & histology , Longitudinal Studies , Face/anatomy & histology , Sex Characteristics , Phenotype , Cephalometry/methods
6.
J Orthod ; 49(4): 403-411, 2022 Dec.
Article in English | MEDLINE | ID: mdl-35723071

ABSTRACT

OBJECTIVE: To determine whether maternal smoking and/or alcohol consumption has an influence on lip morphology. Maternal smoking is a known risk factor for orofacial clefts; however, its influence on normal lip variation is unknown. Recent research regarding normal lip morphology has been contradictory. DESIGN: Retrospective cohort study. SETTING AND PARTICIPANTS: A total of 4747 children from the Avon Longitudinal Study of Parents and Children (ALSPAC) who each had 3D facial scans carried out at 15 years of age were included in the study. METHODS: Each of the participants was automatically categorised regarding predetermined lip morphological traits. Questionnaires completed by their mothers identified smoking and alcohol habits during pregnancy. Logistic regression analyses were applied to determine the effect of maternal smoking and alcohol consumption on lip morphology. RESULTS: Maternal smoking has significant effects on upper and lower lip contours, Cupid's bow, lower lip-chin shape and lower lip tone (all P < 0.05). There was also an indication of a potential epigenetic effect of smoking pre-pregnancy on upper lip contour (P = 0.0573). Alcohol consumption is significantly associated with philtrum shape, particularly when >6 units of alcohol are consumed per week (P = 0.0149, 32 weeks). Overall results suggest a deeply grooved philtrum is more likely if alcohol is consumed. Investigating the combined effect of smoking and alcohol consumption, lower lip contour (P = 0.00923) and lower lip-chin shape (P = 0.0171) are statistically significant, with lower lip contour more likely to be narrow in the midline, and lower lip-chin shape more likely to be an angular concavity. CONCLUSION: Maternal smoking influences a number of lip traits, including a possible epigenetic effect on upper lip contour. Maternal alcohol consumption, particularly at a high level, influences philtrum shape. Maternal smoking and alcohol consumption have a combined effect on lower lip contour and lower lip-chin shape.


Subject(s)
Cleft Lip , Cleft Palate , Humans , Child , Pregnancy , Female , Cleft Lip/etiology , Cleft Palate/complications , Smoking , Longitudinal Studies , Retrospective Studies , Alcohol Drinking , Ethanol
7.
Behav Sci (Basel) ; 12(3)2022 Mar 17.
Article in English | MEDLINE | ID: mdl-35323402

ABSTRACT

The COVID-19 pandemic has resulted in heightened anxiety levels among teachers, especially regarding PE teachers who are required to engage students in practical in-person or contact teaching lessons. Previous research showed that these levels of anxiety among PE teachers appeared to be explained by the interplay between COVID-19 knowledge, workplace safety perception, and educational qualification. This study assessed the relationship between COVID-19-related knowledge and anxiety response among PE teachers during such practical lessons while moderating the effects of workplace safety perception and educational qualification within the relationship. The study conveniently recruited 160 PE teachers to solicit responses through both online and printed questionnaires. Using correlation and linear regression analyses, the study revealed a significant negative relationship between COVID-19-related knowledge and anxiety response among PE teachers. The educational qualification of PE teachers did not significantly moderate the association between COVID-19-related knowledge and anxiety response. Workplace safety perception significantly moderated the association between COVID-19-related knowledge and anxiety response among PE teachers. The findings remind educational authorities about the essence of creating a positive and safe working environment conducive to academic work. Achieving this goal requires the provision of adequate COVID-19 management logistics (e.g., personal protective equipment, hand sanitizers) by educational authorities for PE teachers to maintain safety practices and optimal learning conditions.

8.
PLoS Genet ; 17(8): e1009695, 2021 08.
Article in English | MEDLINE | ID: mdl-34411106

ABSTRACT

Facial morphology is highly variable, both within and among human populations, and a sizable portion of this variation is attributable to genetics. Previous genome scans have revealed more than 100 genetic loci associated with different aspects of normal-range facial variation. Most of these loci have been detected in Europeans, with few studies focusing on other ancestral groups. Consequently, the degree to which facial traits share a common genetic basis across diverse sets of humans remains largely unknown. We therefore investigated the genetic basis of facial morphology in an East African cohort. We applied an open-ended data-driven phenotyping approach to a sample of 2,595 3D facial images collected on Tanzanian children. This approach segments the face into hierarchically arranged, multivariate features that capture the shape variation after adjusting for age, sex, height, weight, facial size and population stratification. Genome scans of these multivariate shape phenotypes revealed significant (p < 2.5 × 10-8) signals at 20 loci, which were enriched for active chromatin elements in human cranial neural crest cells and embryonic craniofacial tissue, consistent with an early developmental origin of the facial variation. Two of these associations were in highly conserved regions showing craniofacial-specific enhancer activity during embryological development (5q31.1 and 12q21.31). Six of the 20 loci surpassed a stricter threshold accounting for multiple phenotypes with study-wide significance (p < 6.25 × 10-10). Cross-population comparisons indicated 10 association signals were shared with Europeans (seven sharing the same associated SNP), and facilitated fine-mapping of causal variants at previously reported loci. Taken together, these results may point to both shared and population-specific components to the genetic architecture of facial variation.


Subject(s)
Black People/genetics , Face/anatomy & histology , Genome-Wide Association Study/methods , Quantitative Trait Loci , White People/genetics , Adolescent , Child , Child, Preschool , Cohort Studies , Female , Humans , Image Processing, Computer-Assisted , Male , Polymorphism, Single Nucleotide , Tanzania , Young Adult
9.
PLoS Genet ; 17(5): e1009528, 2021 05.
Article in English | MEDLINE | ID: mdl-33983923

ABSTRACT

The analysis of contemporary genomic data typically operates on one-dimensional phenotypic measurements (e.g. standing height). Here we report on a data-driven, family-informed strategy to facial phenotyping that searches for biologically relevant traits and reduces multivariate 3D facial shape variability into amendable univariate measurements, while preserving its structurally complex nature. We performed a biometric identification of siblings in a sample of 424 children, defining 1,048 sib-shared facial traits. Subsequent quantification and analyses in an independent European cohort (n = 8,246) demonstrated significant heritability for a subset of traits (0.17-0.53) and highlighted 218 genome-wide significant loci (38 also study-wide) associated with facial variation shared by siblings. These loci showed preferential enrichment for active chromatin marks in cranial neural crest cells and embryonic craniofacial tissues and several regions harbor putative craniofacial genes, thereby enhancing our knowledge on the genetic architecture of normal-range facial variation.


Subject(s)
Biometric Identification , Face/anatomy & histology , Genomics , Imaging, Three-Dimensional , Multifactorial Inheritance/genetics , Phenotype , Siblings , Adolescent , Child , Child, Preschool , Craniofacial Abnormalities/genetics , Datasets as Topic , Europe/ethnology , Face/abnormalities , Face/embryology , Female , Genetic Association Studies , Humans , Male , White People/genetics
10.
Nat Genet ; 53(6): 830-839, 2021 06.
Article in English | MEDLINE | ID: mdl-33821002

ABSTRACT

Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown. We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain-face cross-talk. Brain shape heritability is equivalently enriched near regulatory regions active in either forebrain organoids or facial progenitors. However, we do not detect significant overlap between shared brain-face genome-wide association study signals and variants affecting behavioral-cognitive traits. These results suggest that early in embryogenesis, the face and brain mutually shape each other through both structural effects and paracrine signaling, but this interplay may not impact later brain development associated with cognitive function.


Subject(s)
Brain/anatomy & histology , Face/anatomy & histology , Inheritance Patterns/genetics , Adult , Aged , Behavior , Cognition , Female , Genetic Loci , Genome-Wide Association Study , Humans , Magnetic Resonance Imaging , Male , Mental Disorders/genetics , Middle Aged , Multivariate Analysis
11.
Front Genet ; 12: 626403, 2021.
Article in English | MEDLINE | ID: mdl-33692830

ABSTRACT

Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate (NSCL/P) show distinctive facial features. The presence of this facial endophenotype is potentially an expression of underlying genetic susceptibility to NSCL/P in the larger unselected population. To explore this hypothesis, we first partitioned the face into 63 partially overlapping regions representing global-to-local facial morphology and then defined endophenotypic traits by contrasting the 3D facial images from 264 unaffected parents of individuals with NSCL/P versus 3,171 controls. We observed distinct facial features between parents and controls across 59 global-to-local facial segments at nominal significance (p ≤ 0.05) and 52 segments at Bonferroni corrected significance (p < 1.2 × 10-3), respectively. Next, we quantified these distinct facial features as univariate traits in another dataset of 8,246 unaffected European individuals and performed a genome-wide association study. We identified 29 independent genetic loci that were associated (p < 5 × 10-8) with at least one of the tested endophenotypic traits, and nine genetic loci also passed the study-wide threshold (p < 8.47 × 10-10). Of the 29 loci, 22 were in proximity of loci previously associated with normal facial variation, 18 were near genes that show strong evidence in orofacial clefting (OFC), and another 10 showed some evidence in OFC. Additionally, polygenic risk scores for NSCL/P showed associations with the endophenotypic traits. This study thus supports the hypothesis of a shared genetic architecture of normal facial development and OFC.

12.
Nat Genet ; 53(1): 45-53, 2021 01.
Article in English | MEDLINE | ID: mdl-33288918

ABSTRACT

The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.


Subject(s)
Face/anatomy & histology , Genome-Wide Association Study , Acetylation , Enhancer Elements, Genetic/genetics , Epistasis, Genetic , Extremities/embryology , Face/embryology , Genetic Loci , Histones/metabolism , Humans , Lysine/metabolism , Meta-Analysis as Topic , Multivariate Analysis , Neural Crest/cytology , Phenotype , Polymorphism, Single Nucleotide/genetics , Skull/embryology , United Kingdom , United States
13.
Heliyon ; 6(6): e04093, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32514484

ABSTRACT

PURPOSE: The aim of this study was to determine the influence of different morphological lip shape during lip movement. METHOD: A sample of 80 individuals with three-dimensional facial images at rest and during speech were recorded. Subjects were asked to pronounce four bilabial words in a relaxed manner and scanned using the 3dMDFace™ Dynamic System at 48 frames per second. Six lip landmarks were identified at rest and the landmark displacement vectors for the frame of maximal lip movement for all six visemes were recorded. Principal component analysis was applied to isolate relationship between lip traits and their registered coordinates. Eight specific resting morphological lip traits were identified for each individual. The principal component (PC) scores for each viseme were labelled by lip morphological trait and were graphically visualized as ellipses to discriminate any differences in lip movement. RESULTS: The first five PCs accounted for up to 95% of the total variance in lip shape during movement, with PC1 accounting for at least 38%. There was no clear discrimination between PC1, PC2 and PC3 for any of the resting morphological lip traits. CONCLUSION: Lip shapes during movement are more uniform between individuals and resting morphological lip shape does not influence movement of the lips.

14.
Orthod Craniofac Res ; 23(3): 323-331, 2020 Aug.
Article in English | MEDLINE | ID: mdl-32163667

ABSTRACT

OBJECTIVES: The aim of this prospective controlled study was to evaluate the effectiveness of the rapid maxillary expander (RME) and face mask treatment using three-dimensional soft-tissue facial characteristics of pre-pubertal Class III children. SETTING AND SAMPLE POPULATION: CLIII and non-CLIII groups, both of 32 white children aged 6-8 years participated. MATERIAL AND METHODS: Facial surface images were obtained using stereophotogrammetry at T0 and T1 and were superimposed. Landmark-based and surface-based facial parameters were measured, and group differences were quantified (ANOVA; P ≥ .05). RESULTS: CLIII children had less mid-face prominence, shorter lower facial height and protruded mandible when compared to non-CLIII children at T0. At T1, the differences between the groups were not statistically significant, indicating successful correction. After the RME/face mask treatment, the n-sn and sn-pg distances increased by 1.5 mm and 2.2 mm, respectively. The distance from sn to the n-pg line increased by 1 mm, the n-sn-pg angle decreased by almost 2°. Pogonion moved downward by 2.5 mm and posteriorly by 3 mm. The surface-based measurements between the groups after treatment showed anterior movement in the mid-face region and the upper lip region. The lower lip and chin region moved posteriorly in the CLIII group and anteriorly in the non-CLIII group. CONCLUSIONS: After RME/face mask treatment, the lower facial height increased, the maxilla moved anteriorly, and the mandible moved posteriorly. Consequently, CLIII children reached the respective values of the non-CLIII children, indicating a harmonious facial appearance of CLIII children. The results have been obtained using non-invasive technique.


Subject(s)
Malocclusion, Angle Class III , Maxilla , Cephalometry , Child , Humans , Mandible , Prospective Studies , Retrospective Studies
15.
J Imaging ; 6(5)2020 May 18.
Article in English | MEDLINE | ID: mdl-34460736

ABSTRACT

This cross-sectional study aims to assess the influence of maternal smoking and alcohol consumption during pregnancy on the facial shape of non-syndromic English adolescents and demonstrate the potential benefits of using multilevel principal component analysis (mPCA). A cohort of 3755 non-syndromic 15-year-olds from the Avon Longitudinal Study of Parents and Children (ALSPAC), England, were included. Maternal smoking and alcohol consumption during the 1st and 2nd trimesters of pregnancy were determined via questionnaire at 18 weeks gestation. 21 facial landmarks, used as a proxy for the main facial features, were manually plotted onto 3D facial scans of the participants. The effect of maternal smoking and maternal alcohol consumption (average 1-2 glasses per week) was minimal, with 0.66% and 0.48% of the variation in the 21 landmarks of non-syndromic offspring explained, respectively. This study provides a further example of mPCA being used effectively as a descriptive analysis in facial shape research. This is the first example of mPCA being extended to four levels to assess the influence of environmental factors. Further work on the influence of high/low levels of smoking and alcohol and providing inferential evidence is required.

16.
Eur J Orthod ; 42(5): 517-524, 2020 11 03.
Article in English | MEDLINE | ID: mdl-31748803

ABSTRACT

INTRODUCTION: Several studies have highlighted differences in the facial features in a White European population. Genetics appear to have a major influence on normal facial variation, and environmental factors are likely to have minor influences on face shape directly or through epigenetic mechanisms. AIM: The aim of this longitudinal cohort study is to determine the rate of change in midline facial landmarks in three distinct homogenous population groups (Finnish, Latvian, and Welsh) from 12.8 to 15.3 years of age. This age range covers the pubertal growth period for the majority of boys and girls. METHODS: A cohort of children aged 12 were monitored for facial growth in three countries [Finland (n = 60), Latvia (n = 107), and Wales (n = 96)]. Three-dimensional facial surface images were acquired (using either laser or photogrammetric methods) at regular intervals (6-12 months) for 4 years. Ethical approval was granted in each country. Nine midline landmarks were identified and the relative spatial positions of these surface landmarks were measured relative to the mid-endocanthion (men) over a 4-year period. RESULTS: This study reports the children who attended 95 per cent of all scanning sessions (Finland 48 out of 60; Latvia 104 out of 107; Wales 50 out of 96). Considerable facial variation is seen for all countries and sexes. There are clear patterns of growth that show different magnitudes at different age groups for the different country groups, sexes, and facial parameters. The greatest single yearly growth rate (5.4 mm) was seen for Welsh males for men-pogonion distance at 13.6 years of age. Males exhibit greater rates of growth compared to females. These variations in magnitude and timings are likely to be influenced by genetic ancestry as a result of population migration. CONCLUSION: The midline points are a simple and valid method to assess the relative spatial positions of facial surface landmarks. This study confirms previous reports on the subtle differences in facial shapes and sizes of male and female children in different populations and also highlights the magnitudes and timings of growth for various midline landmark distances to the men point.


Subject(s)
Face , Photogrammetry , Cephalometry , Child , Face/anatomy & histology , Female , Finland , Humans , Imaging, Three-Dimensional , Longitudinal Studies , Male
17.
Elife ; 82019 11 26.
Article in English | MEDLINE | ID: mdl-31763980

ABSTRACT

The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (padjusted < 2.1 × 10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.


Subject(s)
Face/anatomy & histology , Genetic Loci/genetics , Maxillofacial Development/genetics , Phenotype , Adolescent , Adult , Anatomic Landmarks , Body Patterning/genetics , Child , Child, Preschool , Female , Gene Expression Regulation, Developmental/genetics , Gene Ontology , Genetic Variation , Genome-Wide Association Study , Genotype , Humans , Imaging, Three-Dimensional , Male , Middle Aged , Multifactorial Inheritance , Polymorphism, Single Nucleotide , Young Adult
18.
PLoS One ; 14(10): e0221197, 2019.
Article in English | MEDLINE | ID: mdl-31661502

ABSTRACT

Classification of facial traits (e.g., lip shape) is an important area of medical research, for example, in determining associations between lip traits and genetic variants which may lead to a cleft lip. In clinical situations, classification of facial traits is usually performed subjectively directly on the individual or recorded later from a three-dimensional image, which is time consuming and prone to operator errors. The present study proposes, for the first time, an automatic approach for the classification and categorisation of lip area traits. Our approach uses novel three-dimensional geometric features based on surface curvatures measured along geodesic paths between anthropometric landmarks. Different combinations of geodesic features are analysed and compared. The effect of automatically identified categories on the face is visualised using a partial least squares method. The method was applied to the classification and categorisation of six lip shape traits (philtrum, Cupid's bow, lip contours, lip-chin, and lower lip tone) in a large sample of 4747 faces of normal British Western European descents. The proposed method demonstrates correct automatic classification rate of up to 90%.


Subject(s)
Cleft Lip , Image Processing, Computer-Assisted , Lip/pathology , Quantitative Trait, Heritable , Adolescent , Cleft Lip/genetics , Cleft Lip/pathology , Female , Humans , Male
19.
J Orthod ; 46(4): 311-322, 2019 12.
Article in English | MEDLINE | ID: mdl-31631744

ABSTRACT

AIM: To determine factors that may influence the outcome of orthodontic treatment undertaken in General Dental Services/Personal Dental Services in South East Wales. DESIGN AND SETTING: A retrospective study of a requested 20 consecutively treated cases (for the year 2014-2015) provided by 26 performers in South East Wales. METHOD: Performer and patient information was obtained by use of a questionnaire and FP17OW forms, respectively. A calibrated investigator recorded the Index of Orthodontic Treatment Need (IOTN), Peer Assessment Rating (PAR) and the Index of Complexity, Outcome and Need (ICON) on start- and end-study models for each case. Descriptive and regression analyses were undertaken to identify any predictive factors of a good treatment outcome. RESULTS: Two respondents completed < 20 cases, so all of their cases were assessed. A total of 495 cases were assessed. The overall achieved mean end-PAR score of 5 is collectively a good occlusal outcome. Predictive factors of a good quality of occlusal outcome (end-PAR score being ⩽ 5) were: dual arch treatment; use of functional with fixed appliances; treatment undertaken in non-corporate practices; and treatment undertaken by registered specialists (P < 0.001). Predictive factors for occlusal improvement (change in PAR score) were: IOTN aesthetic component (AC); IOTN dental health component (DHC) (1-3 or 4-5); and number of arches treated and malocclusion type (P < 0.001). CONCLUSIONS: Dual arch fixed appliances undertaken by orthodontic specialists in non-corporate environments produced the highest quality orthodontic outcomes. Those who have the highest need for treatment according to IOTN DHC and AC benefit most in terms of improvement achieved in PAR score.


Subject(s)
Malocclusion , Orthodontics, Corrective , Esthetics, Dental , Humans , Retrospective Studies , Treatment Outcome , Wales
20.
Drug Alcohol Depend ; 197: 42-47, 2019 04 01.
Article in English | MEDLINE | ID: mdl-30772781

ABSTRACT

BACKGROUND: High levels of prenatal alcohol exposure are known to cause an array of adverse outcomes including fetal alcohol syndrome (FAS); however, the effects of low to moderate exposure are less-well characterized. Previous findings suggest that differences in normal-range facial morphology may be a marker for alcohol exposure and related adverse effects. METHODS: In the Avon Longitudinal Study of Parents and Children, we tested for an association between maternal alcohol consumption and six FAS-related facial phenotypes in their offspring, using both self-report questionnaires and the maternal genotype at rs1229984 in ADH1B as measures of maternal alcohol consumption. RESULTS: In both self-reported alcohol consumption (N = 4233) and rs1229984 genotype (N = 3139) analyses, we found no strong statistical evidence for an association between maternal alcohol consumption and facial phenotypes tested. The directions of effect estimates were compatible with the known effects of heavy alcohol exposure, but confidence intervals were largely centered around zero. CONCLUSIONS: There is no strong evidence, in a sample representative of the general population, for an effect of prenatal alcohol exposure on normal-range variation in facial morphology.


Subject(s)
Face/abnormalities , Fetal Alcohol Spectrum Disorders/etiology , Maternal Exposure/adverse effects , Prenatal Exposure Delayed Effects/chemically induced , Adult , Alcohol Dehydrogenase/analysis , Alcohol Drinking/adverse effects , Alcohol Drinking/genetics , Biomarkers/analysis , Child , Face/pathology , Female , Fetal Alcohol Spectrum Disorders/pathology , Genotype , Humans , Longitudinal Studies , Male , Phenotype , Pregnancy , Pregnancy Complications/genetics , Pregnancy Complications/psychology , United Kingdom
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