Robot 3, 97110. 2. Reliability of measuring facial morphology with a 3-dimensional laser scanning system. It is therefore important to use causal inference techniques such as epigenetic Mendelian randomization Relton and Davey Smith, 2012) or the Steiger test (Hemani et al., 2017) to orientate the likely directions of effect between phenotypes, epigenetic modifications and gene expression. Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P. 224, 688709. Taste. (2014). Pflugers. Am. J. Forensic Sci. Increasing the sample sizes of genetic studies of facial morphology through international collaborations, such as the type II diabetes consortia DIAGRAM (Morris et al., 2012), will help to improve the understanding of genetic associations and shared influences on facial traits (Evans, 2018). It only takes an hour to cross the Irish Sea from Scotland - but sometimes it can feel like you're on the other side of the world. (2014). Vig (Hoboken, NJ: Wiley-Blackwell). (2016). The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. doi: 10.1097/MJT.0b013e3182583bd1, Jablonski, N. G., and Chaplin, G. (2000). genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. doi: 10.1093/ejo/cjs107, Al Ali, A., Richmond, S., Popat, H., Toma, A. M., Playle, R., Zhurov, A. I., et al. doi: 10.1371/journal.pcbi.1003375, Pickrell, J. K., Berisa, T., Liu, J. Touch device users, explore by touch or with swipe gestures. A significant number of genes are integrally involved in cranial neural crest cells and patternation of the craniofacial complex (e.g., C5orf50, MAFB, and PAX3). Int. Lancet Oncol. Genetic determination of human facial morphology: links between cleft-lips and normal variation. A genome-wide association study identifies five loci influencing facial morphology in Europeans. The handling Editor is currently collaborating with author SR and confirms the absence of any other collaboration. J. Hum. Nat. There is evidence that nsCL/P genetic risk variants have an additive effect on philtrum width across the general population. ORahilly, R. (1972). The collective use of these techniques to identify the various facial features will increase the robustness of linking the DNA to a likely suspect/candidate. 16, 146160. doi: 10.1371/journal.pone.0118355, Paternoster, L., Zhurov, A. I., Toma, A. M., Kemp, J. P., Pourcain, B. S., Timpson, N. J., et al. 289, 4050. Another even smaller group of Irish people (around 1% of the population) have black hair, light or tan skin, and brown eyes. (2014). Jaenisch, R., and Bird, A. 81, 351370. doi: 10.1073/pnas.1316513111, Wilderman, A., VanOudenhove, J., Kron, J., Noonan, J. P., and Cotney, J. 22, 12681271. Keywords: 3D imaging, admixture, ancestry, facial variation, geometric morphometrics, facial genetics, facial phenotyping, genetic-environmental influences, Citation: Richmond S, Howe LJ, Lewis S, Stergiakouli E and Zhurov A (2018) Facial Genetics: A Brief Overview. These were the most native Irish traditional folk dances. 26, 6469. Dis. The Argyle has fewer buttons and is suitable for daytime and evening use. Improved facial outcome assessment using a 3D anthropometric mask. J. Orthod. Biol. Heritability maps of human face morphology through large-scale automated three-dimensional phenotyping. TABLE 2. J. Neuroradiol. J. Hum. Further detail is required on the heritability of facial features with particular attention to inherited pathways of specific facial features in homogenous populations and populations with significant admixture. New perspectives on craniofacial growth. Enhancers have a specific role in the expression of a target gene in different cells, anatomical regions and during different developmental time-points (Visel et al., 2009; Attanasio et al., 2013; Wilderman et al., 2018). Nat. doi: 10.1016/j.fsigen.2016.01.010, Tsagkrasoulis, D., Hysi, P., Spector, T., and Montana, G. (2017). 3. J. Orthod. Genet. For instance, the PAX3 gene is associated with eye to nasion distance, prominence of the nasion and eye width, side walls of the nose, and prominence of nose tip. (2016). 227, 474486. Genet. Prevention may be challenging (other than continually improving environmental conditions and reducing exposure to potential epigenetic factors) as facial development occurs very early in gestation during a period whereby the mother is often unaware she is pregnant. (2016). Indeed, modern day Latin Americans have mixed African, European and Native American ancestry, with genetic admixture highly predictive of physical appearance. The pure Anglo Saxon type is Nordic looking like people from Scandinavia. The Celts originated in Asia minor and Iberia and would have absorbed man I notice that many folks from the South and Lower Midwest (especially Kentucky, Indiana and Tennessee), where Irish and Scottish ancestry are the most Similarly, it has been hypothesized that maternal smoking may influence facial morphology and be a risk factor for cleft lip and palate (Xuan et al., 2016) with DNA methylation a possible mediator (Armstrong et al., 2016). Genomewide association study of african children identifies association of SCHIP1 and PDE8A with facial size and shape. Am. Eur. During the pubertal growth period (918 years) facial images should be captured more frequently and if studying pubertal influences facial images should be captured at least every 6 months. Facial features can be broadly characterized in terms of the size and shape of the whole face and/or its component parts (e.g., big/small head; short/long and wide/thin face, prominent or retrusive chin). Heavy metals and placental fetal-maternal barrier: a mini-review on the major concerns. Nature 461, 199205. For detailed embryological development the reader should read the original articles or illustrated reviews (Som and Naidich, 2013, 2014). Anthropol. The FaceBase consortium: a comprehensive program to facilitate craniofacial research. Genet. J. Epidemiol. Many of these substances can cross the placenta (Naphthalene a volatile polycyclic aromatic hydrocarbon related to solvent emissions is present in household products and pesticides Mirghani et al., 2015; Nicotine Wickstrm, 2007; Drugs and alcohol Lange et al., 2014). There was reduced facial convexity (SNAI1), obtuse nasolabial angles, more protrusive chins (SNAI1, IRF6, MSX1, MAFB), increased lower facial heights (SNAI1), thinner and more retrusive lips and more protrusive foreheads (ABCA4-ARHGAP29, MAFB) in the nsCL/P relatives compared to controls. Howe, L. J., Sharp, G. C., Hemani, G., Zuccolo, L., Richmond, S., and Lewis, S. J. B Biol. Molecular studies have shown that the growth, structure and patternation of the facial primordia is controlled by a series of complex interactions that involves many factors such as fibroblast growth factors, sonic hedgehog proteins, bone morphogenetic proteins, homeobox genes Barx1 and Msx1, the distal-less homeobox (Dlx) genes, and local retinoic acid gradients (Barlow et al., 1999; Hu and Helms, 1999; Lee et al., 2001; Ashique et al., 2002; Mossey et al., 2009; Marcucio et al., 2015; Parsons et al., 2015). Behav. Aesthetic. A comparison of the prevalence of prenatal alcohol exposure obtained via maternal self-reports versus meconium testing: a systematic literature review and meta-analysis. Int. doi: 10.1016/j.schres.2010.05.001, Hennessy, R. J., Lane, A., Kinsella, A., Larkin, C., OCallaghan, E., and Waddington, J. L. (2004). (2018). Morphometrics, 3D imaging, and craniofacial development. doi: 10.1016/j.breast.2006.08.001, Kuijpers, M. A., Chiu, Y. T., Nada, R. M., Carels, C. E., and Fudalej, P. S. (2014). Facial masculinity does not appear to be a condition-dependent male ornament in humans and does not reflect MHC heterozygosity. Proc. Three-dimensional surface acquisition systems for the study of facial morphology and their application to maxillofacial surgery. Webno, but I can spot a scumbag by their face alone. Acad. One study effectively predicted eye color (85% for brown and 70% for blue), hair color (72% for brown, 63% for blonde, 58% for black, and 48% for red) and ancestry (56%); which are relatively low levels and individually could not be relied on for certain identifications but has greater potential when used collectively (Keating et al., 2013). doi: 10.1016/0002-9416(79)90274-4, Biedermann, A., Bozza, S., and Taroni, F. (2015). Arch. - Many factors such as ancestry, sex, eye/hair color as well as distinctive facial features (such as, shape of the chin, cheeks, eyes, forehead, lips, and nose) can be identified or estimated using an individuals genetic data, with potential applications in healthcare and forensics. Scottish sounds very aggressive while the Irish sounds lively. Med. Sci. (2012). Cham: Springer International Publishing, 674685. The study determined that Scotland is divided into six clusters of Facial morphogenesis: physical and molecular interactions between the brain and the face. Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects. doi: 10.1097/SCS.0b013e3181577b1b, Hallgrimsson, B., Mio, W., Marcucio, R. S., and Spritz, R. (2014). (2003). DNA methylation in newborns and maternal smoking in pregnancy: genome-wide consortium meta-analysis. Genet. Biomed. 9, 255266. There's also some more darker features in some people, like black hair and brown eyes. 34, 655664. Periderm: Life-cycle and function during orofacial and epidermal development. Comparison between breast volume measurement using 3D surface imaging and classical techniques. Differences in horizontal, neoclassical facial canons in Chinese (Han) and North American Caucasian populations. doi: 10.1016/j.ajhg.2016.02.019, Kau, C. H., and Richmond, S. (2008). doi: 10.1111/joa.12365, Dawei, W., Guozheng, Q., Mingli, Z., and Farkas, L. G. (1997). (2013). If you watched at least one episode of Father Ted, you may already have an understanding of the Irish and our affinity for this beverage. 36, 373380. For detailed information on the biological basis of individual genes, the reader should refer to the original articles. The shade NW10 is very pale. 2016:3054578. doi: 10.1155/2016/3054578, Ruiz-Linares, A., Adhikari, K., Acua-Alonzo, V., Quinto-Sanchez, M., Jaramillo, C., Arias, W., et al. Child 41, 613635. Similarly, the naso-labial angle will be associated with nose prominence and DCHS2 is linked to both traits. Behav. Craniofacial enhancers have also been identified acting between the non-coding regions and proposed as a possible instrumental factor in some cleft cases (Wilderman et al., 2018). The influence of snoring, mouth breathing and apnoea on facial morphology in late childhood: a three-dimensional study. doi: 10.1002/bies.20522, Gven, O. CELT, or Kelt, the generic name of an ancient people, the bulk of whom inhabited the central and western parts of Europe. A., White, J. D., Mattern, B. C., Liebowitz, C. R., Puts, D. A., Claes, P., et al. doi: 10.1093/ije/dyg070, Som, P. M., and Naidich, T. P. (2013). WebLike Italian faces, the Irish ones seem to have a wisdom -- they've seen the worst the world can dish out, the difference being that the Irish are still proud of being tough enough to doi: 10.1038/nrg2322, Weinberg, S., Naidoo, S., Bardi, K., Brandon, C., Neiswanger, K., Resick, J., et al. Nat. Yes, Irish people do have A 161a, 412. Res. Surg. Face shape of unaffected parents with cleft affected offspring: combining three-dimensional surface imaging and geometric morphometrics. Am. PLoS Genet. Genet. Aesthet Surg. Identification of individuals by trait prediction using whole-genome sequencing data. Facial fluctuating asymmetry is not associated with childhood ill-health in a large British cohort study. doi: 10.1007/s12024-006-0007-9, Wilson, C., Playle, R., Toma, A., Zhurov, A., Ness, A., and Richmond, S. (2013). 131, 169180. These landmarks are defined by identifiable/describable facial features, e.g., nasion, inner/outer canthi, commissures that can generate Euclidean distances, angles, and ratios (Farkas et al., 2002, 2004, 2005). (2017). 1),S126S146. doi: 10.1016/j.ajodo.2004.06.037, Kayser, M. (2015). With special thanks to Joel. (2012). The US cancer moonshot initiative. doi: 10.1038/ng.3570, Pirttiniemi, P. M. (1994). Perceptions of epigenetics. Epigenomics 10, 2742. Kau, C. H., Richmond, S., Zhurov, A. I., Knox, J., Chestnutt, I., Hartles, F., et al. Hum. (2014). SR, ES, SL, and LH wrote the section Craniofacial Shape Gene Discovery. Endogenous bone morphogenetic proteins regulate outgrowth and epithelial survival during avian lip fusion. doi: 10.1098/rspb.2000.1327, Little, A. C., Penton-Voak, I. S., Burt, D. M., and Perrett, D. I. Prediction in forensic science: a critical examination of common understandings. B., Manyama, M., Larson, J. R., Liberton, D. K., Ferrara, T. M., Riccardi, S. L., et al. 11, 154158. Sharman, N. (2011). Previously published studies that have identified gene-phenotype associations which provides evidence of associations for complex facial traits which can be integrated into prediction models. And, linguistically speaking, the fact that Scottish English only developed three centuries ago makes this accent one of the newest accents in the British Isles. There were subtle differences between males and females in relation to the relative prominence of the lips, eyes, and nasal bridges including minor facial asymmetries (Toma et al., 2008, 2012; Wilson et al., 2013; Abbas et al., 2018). PLoS Genet. This association suggests that developmental processes relating to normal-variation in philtrum development are also etiologically relevant to nsCL/P, highlighting the shared genetic influences on normal-range facial variation and a cranio-facial anomaly (Howe et al., 2018a). Development 129, 46474660. doi: 10.1038/jhg.2009.116, Kovacs, L., Eder, M., Hollweck, R., Zimmermann, A., Settles, M., Schneider, A., et al. Child 41, 454471. 47, 291295. The various acquisition techniques (photographs, MRI, laser and photogrammetry) have been used in different studies and all have identified the PAX3 gene associated with the shape of the nasal root area (Liu et al., 2012; Paternoster et al., 2012; Adhikari et al., 2016; Shaffer et al., 2016; Claes et al., 2018). (2009). (2010). U.S.A. 111, 48324837. Three-dimensional analysis of facial morphology surface changes in untreated children from 12 to 14 years of age. Most epigenetic changes are transient and not generally heritable. SR and LH outlined the overall manuscript. Int. Rev. Dentofacial Orthop. J. Orthod. 4:eaao4364. However, the sample sizes and inconsistencies in research design and particularly statistical management have yielded mixed results. 16, 615646. Dev. Much confusion has arisen from the inaccurate use of the terms " Celt " and " Celtic." Previous epigenome-wide association studies (EWAS) have found evidence of differential DNA methylation between cleft cases and controls (Alvizi et al., 2017), as well as between the different orofacial cleft subtypes (Sharp et al., 2017) implicating the relevance of DNA methylation in craniofacial development. doi: 10.1111/joa.12182, Mirghani, H., Osman, N., Dhanasekaran, S., Elbiss, H. M., and Bekdache, G. (2015). B., Blair, B. Combined face-brain morphology and associated neurocognitive correlates in fetal alcohol spectrum disorders. mesa airlines junior bases, abandoned places in waterloo, iowa,