Facial Genetics: A Brief Overview

Richmond, Stephen; Howe, Laurence J; Lewis, Sarah J.; Stergiakouli, Evie; Zhurov, Alexei I.

doi:10.3389/fgene.2018.00462

Cited by 109 publications

(86 citation statements)

References 182 publications

(214 reference statements)

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“…Part of the sex-specific facial traits was not associated with the male 2D:4D pattern both in our study, and in the studies by our colleagues conducted in Europe [ 23 , 26 ]. This indicates the existence of further mechanisms for sex-specific facial morphogenesis, such as the impact of sex hormone exposure on later stages of ontogenesis (perinatal [ 37 ], pubertal hormones [ 42 ]), allometric effects [ 65 ], genetics [ 66 , 67 ], and sexual selection [ 36 , [68] , [69] , [70] , [71] ]) to result in the observable pattern of sexual dimorphism in young adulthood. The lack of association between 2D:4D and some facial regions might cause null results in studies where only some discrete indexes or incomplete facial shapes are considered.…”

Section: Discussionmentioning

confidence: 99%

Second-to-fourth digit ratio and facial shape in Buryats of Southern Siberia

Rostovtseva

Mezentseva

Windhager

et al. 2020

Early Human Development

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Background The 2nd-to-4th digit ratio (2D:4D) is a putative predictor of a prenatal exposure to sex hormones. 2D:4D is sexually dimorphic (males < females). Studies, linking digit ratio and full facial shapes among Europeans, show that a low 2D:4D is associated with a set of male-specific facial features. Buryats – Mongolian people from Southern Siberia – demonstrate a different pattern of facial sexual dimorphism than Europeans (narrower and more vertically elongated faces in men as opposed to women). Aim The aim of the present study was to investigate the association between facial shape and the 2D:4D in comparison to the pattern of facial sexual dimorphism in Buryats. Subjects Buryats: 88 men and 80 women aged 20 ± 2 years. Outcome measures To assess relationship between facial shape and 2D:4D we used a geometric morphometric approach based on standardized full-face frontal photographs and direct measurements of the digit lengths among right-handed individuals. Results The results revealed that 2D:4D was associated with facial morphology in Buryat men, and to a lesser extent in women. Narrower faces, elongated in the vertical direction, and a narrower lower facial outline, were characteristic of Buryat men with low 2D:4D ratios, which corresponded to the male-like facial shapes in Buryats. Conclusions In Europeans, such facial features were reported for men with a high 2D:4D, which corresponded more to female-like European facial shapes. Hence, our results show that sex-specific morphogenesis in humans is multidirectional, and that digit ratio is capable of predicting sex-specific facial traits even in populations with differing sexually-dimorphic morphology.

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Section: Discussionmentioning

confidence: 99%

Second-to-fourth digit ratio and facial shape in Buryats of Southern Siberia

Rostovtseva

Mezentseva

Windhager

et al. 2020

Early Human Development

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“…Even given that there is a lot of knowledge of genetic mechanisms in congenital malformations like CLP, many genetic interactions with ambient pollutions are not well understood, probably because multifactorial effects produce them [57]. Although more than 300 genes had been associated with CLP, recent research associate CLP cases with two candidate chromosomes, 17q and 11 [58,59], but the gene–environment interaction is still ambiguous [60,61]. More research is needed to understand this association.…”

Section: Discussionmentioning

confidence: 99%

Spatial Clusters of Children with Cleft Lip and Palate and Their Association with Polluted Zones in the Monterrey Metropolitan Area

Gasca-Sanchez

Santos-Guzmán

Elizondo-Dueñaz³

et al. 2019

IJERPH

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This study examines the spatial structure of children with cleft lip and palate (CLP) and its association with polluted areas in the Monterrey Metropolitan Area (MMA). The Nearest Neighbor Index (NNI) and the Spatial Statistical Scan (SaTScan) determined that the CLP cases are agglomerated in spatial clusters distributed in different areas of the city, some of them grouping up to 12 cases of CLP in a radius of 1.2 km. The application of the interpolation by empirical Bayesian kriging (EBK) and the inverse distance weighted (IDW) method showed that 95% of the cases have a spatial interaction with values of particulate matter (PM10) of more than 50 points. The study also shows that 83% of the cases interacted with around 2000 annual tons of greenhouse gases. This study may contribute to other investigations applying techniques for the identification of environmental and genetic factors possibly associated with congenital malformations and for determining the influence of contaminating substances in the incidence of these diseases, particularly CLP.

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“…Heritability estimation has been an early interest in facial research (Hunter et al, 1970; Nakata et al, 1976; Hoskens et al, 2018; Richmond et al, 2018). Heritability denotes the proportion of variation in an outcome that is attributable to genetic variation.…”

Section: Reliability and Heritabilitymentioning

confidence: 99%

Quantification of Facial Traits

Böhringer

Jong

2019

Front. Genet.

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Measuring facial traits by quantitative means is a prerequisite to investigate epidemiological, clinical, and forensic questions. This measurement process has received intense attention in recent years. We divided this process into the registration of the face, landmarking, morphometric quantification, and dimension reduction. Face registration is the process of standardizing pose and landmarking annotates positions in the face with anatomic description or mathematically defined properties (pseudolandmarks). Morphometric quantification computes pre-specified transformations such as distances. Landmarking: We review face registration methods which are required by some landmarking methods. Although similar, face registration and landmarking are distinct problems. The registration phase can be seen as a pre-processing step and can be combined independently with a landmarking solution. Existing approaches for landmarking differ in their data requirements, modeling approach, and training complexity. In this review, we focus on 3D surface data as captured by commercial surface scanners but also cover methods for 2D facial pictures, when methodology overlaps. We discuss the broad categories of active shape models, template based approaches, recent deep-learning algorithms, and variations thereof such as hybrid algorithms. The type of algorithm chosen depends on the availability of pre-trained models for the data at hand, availability of an appropriate landmark set, accuracy characteristics, and training complexity. Quantification: Landmarking of anatomical landmarks is usually augmented by pseudo-landmarks, i.e., indirectly defined landmarks that densely cover the scan surface. Such a rich data set is not amenable to direct analysis but is reduced in dimensionality for downstream analysis. We review classic dimension reduction techniques used for facial data and face specific measures, such as geometric measurements and manifold learning. Finally, we review symmetry registration and discuss reliability.

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Facial Genetics: A Brief Overview

Cited by 109 publications

References 182 publications

Second-to-fourth digit ratio and facial shape in Buryats of Southern Siberia

Second-to-fourth digit ratio and facial shape in Buryats of Southern Siberia

Spatial Clusters of Children with Cleft Lip and Palate and Their Association with Polluted Zones in the Monterrey Metropolitan Area

Quantification of Facial Traits

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