Ideally facial images should be captured at birth, 5, 9, 12, 15, and 18 years of age and repeated every 10 years of age to capture facial features. Eur. (2016). Clin. Historically, craniofacial genetic research has understandably focused on identifying the causes of craniofacial anomalies and it has only been within the last 10 years, that there has been a drive to detail the biological basis of normal-range facial variation. Strong levels of phenotypic and genotypic spousal assortment have been previously demonstrated for height (Robinson et al., 2017) and similar methods could be applied using facial phenotypes to explore the influences of facial morphology on mate choice. Twin studies have indicated that facial shape is mainly due to genetic influences (75%) although the percentage variance explained in GWAS studies is extremely low generally explaining less than 2% of the total variance. Heritability of mandibular cephalometric variables in twins with completed craniofacial growth. Indeed, the last Habsburg King of Spain, Charles II, was reported to have had difficulties eating and speaking because of facial deformities. doi: 10.2174/157015907781695955, Wilde, S., Timpson, A., Kirsanow, K., Kaiser, E., Kayser, M., Unterlnder, M., et al. However, a small proportion of epigenetic changes are transgenerational (Rachdaoui and Sarkar, 2014). Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. J. Med. doi: 10.1007/978-3-319-60964-5_59. doi: 10.1016/0002-9416(79)90274-4, Biedermann, A., Bozza, S., and Taroni, F. (2015). Long-range enhancers regulating Myc expression are required for normal facial morphogenesis. List of genes and SNPs associated with normal variation ranked by chromosome position (GWAS). Gene association with regionalized facial features in normal populations. Sci. Epigenetics and gene expression. Eur. De Greef, S., Claes, P., Vandermeulen, D., Mollemans, W., Suetens, P., and Willems, G. (2006). 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). - Understanding the etiology of craniofacial anomalies; e.g., unaffected family members of individuals with non-syndromic cleft lip/palate (nsCL/P) have been shown to differ in terms of normal-range facial variation to the general population suggesting an etiological link between facial morphology and nsCL/P. Scott, I. M., Clark, A. P., Boothroyd, L. G., and Penton-Voak, I. S. (2013). Yes, Irish people do have make each individual human face unique, although closely related individuals such as monozygotic twins have very similar facial structures. 23, 44524464. Rev. doi: 10.1016/S1470-2045(16)30054-7, Al Ali, A., Richmond, S., Popat, H., Playle, R., Pickles, T., Zhurov, A. I., et al. Forensic age prediction for saliva samples using methylation-sensitive high resolution melting: exploratory application for cigarette butts. 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). 47, 928937. (2013). This has been proposed as a method to build a profile of facial features from a sample of DNA (Claes et al., 2014) but could also be used to determine previous health history or future health risks (Idemyor, 2014). 34, 655664. Birth Defects Res. (2007). doi: 10.1371/journal.pgen.1004724, Hallgrimsson, B., Percival, C. J., Green, R., Young, N. M., Mio, W., and Marcucio, R. (2015). WebYou may have porcelain, pale skin, or you may have freckles that outnumber the days of the year, but your features will be pleasantly proportioned and your eyes bright, with a genuine smile that lights up your face. Abbas, H., Hicks, Y., Marshall, D., Zhurov, A. I., and Richmond, S. (2018). J. Orthod. J. BMC Pregn. Scottish sounds very aggressive while the Irish sounds lively. J. Hum. Sci. Effect of low-dose testosterone treatment on craniofacial growth in boys with delayed puberty. Med. Orienting the causal relationship between imprecisely measured traits using GWAS summary data. Normal facial development is dependent on Cranial Neural Crest Cells and correctly spatially positioned and differentiated tissues and structures that influence the shape and morphological features of the face. Sci. (2014b). Variations of this toast include slinte mhaith "good health" in Irish ( mhaith being the lenited form of maith "good"). Up for the craic the craic is nothing but mighty with us. Despite the promise of early craniofacial epigenetic studies, there are important caveats worth noting. Early growth genetics (EGG) consortium. From the moment of conception, the parental environment can influence the development of the fetus. Despite some evidence for positive correlation between blood and lip tissue DNA methylation (Alvizi et al., 2017; Howe et al., 2018b), the extent to which blood is a suitable proxy is unknown. 42, 525529. Biol. Robot 6, 422430. (2014). Genet. Identifying genetic variants influencing facial phenotypes can lead to improved etiological understanding of craniofacial anomalies, advances in forensic prediction using DNA and testing of evolutionary hypotheses. doi: 10.1111/joa.12365, Dawei, W., Guozheng, Q., Mingli, Z., and Farkas, L. G. (1997). Its what gives Irish Whiskey its often, not always, lighter and smoother taste, while Scotch will often taste heavier and fuller. 26, 6469. They just released a fascinating study which aligns many pictures of individuals from every country and created composite images of what the average face would look like. They are, of course, there, but literally at units. Identification of 15 loci influencing height in a Korean population. et al., 2015) and Mendelian randomization can provide information on the genetic overlap of facial phenotypes with other genetic traits and the possibility to causally assess the association of risk factors with face development (Smith and Ebrahim, 2003). Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology. J. Orthod. Cell Rep. 23, 15811597. 15, 288298. Eur. The molecular hallmarks of epigenetic control. II. 2. Although, it is known that the PAX3 influences the prominence of the bridge of the nose it is more challenging to know to what extent this influences adjacent facial regions in each individual. Furthermore, it is unclear whether the epigenetic profile of lip and palate tissues postnatally are comparable to the same tissues during embryonic development. (2016). In the 2017 American Community Survey, 5.39 Schizophr. Head Face Med. Face height (28.8%), width of the eyes (10.4%) and prominence of the nose (6.7%) explained 46% of total facial variance (Toma et al., 2012). 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. Dentofacial Orthop. Genomic views of distant-acting enhancers. Fatemifar, G., Hoggart, C. J., Paternoster, L., Kemp, J. P., Prokopenko, I., Horikoshi, M., et al. Craniofacial epigenetic studies to date have largely focused on orofacial clefts. (2013). 14:e1007501. Similar levels of genetic-environmental contributions have been reported for some facial features. Dis. J. Med. 40, 3642. - Improved understanding of historical selection and adaptation relating to facial phenotypes, for example, skin pigmentation and geographical latitude. doi: 10.1093/hmg/ddh052, Stephan, C., Norris, R., and Henneberg, M. (2005). The GWAS studies have provided insights into the genetic influences on facial shape. Res. 21, 137143. Part A 143, 11431149. (2012). Nat. doi: 10.1002/ajhb.21208, Jelenkovic, A., Poveda, A., Susanne, C., and Rebato, E. (2010). Sharman, N. (2011). GWAS may be underestimating and twin and family studies overestimating the levels of heritability. 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). doi: 10.1016/j.ijom.2011.10.019, Cole, J. 415, 171187. doi: 10.1001/jamapediatrics.2017.0778, Munn, L., and Stephan, C. N. (2018). Almond-shaped, heavy eyes are characteristic of Cherokee Indians, a trait that is due to an extra fold in the eyelid. Historically, craniofacial genetic research has understandably focused on identifying the causes of craniofacial anomalies and it has only been within the last 10 years, that there has been a drive to detail the biological basis of normal-range facial variation. doi: 10.1038/ng.3211, Carels, C., Van Cauwenberghe, N., Savoye, I., Willems, G., Loos, R., Derom, C., et al. doi: 10.1136/adc.41.219.454, Tanner, J. M., Whitehouse, R. H., and Takaishi, M. (1966b). doi: 10.1371/journal.pgen.1004572, Schmidt, E., and Kornfeld, J. W. (2016). Nature 414, 909912. Non-genomic transgenerational inheritanceof disease risk. doi: 10.1371/journal.pone.0176566, Lee, S. H., Fu, K. K., Hui, J. N., and Richman, J. M. (2001). 136, 275286. 1:0016. Oral Pathol. The prevalence of lip vermilion morphological traits in a 15-year-old population. doi: 10.1111/1467-8721.00190, Freund, M. K., Burch, K., Shi, H., Mancuso, N., Kichaev, G., Garske, K. M., et al. The genes and broad regional associations are shown in Table 2 (ordered by facial feature and chromosome) and Figure 1 (showing facial region). Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate. What are Typical Irish Facial Features? EX. J. Epidemiol. (2007). Some of these early factors such as nictotine and alcohol may potentially influence on early neurological development (Wickstrm, 2007). Dis. Information on an individuals facial morphology can have several important clinical and forensic applications; informing patient specific models, improving and reducing the need for extensive surgical interventions for craniofacial anomalies/trauma, prediction/reconstruction of the facial form from skeletal remains, and identification of suspects from DNA (Stephan et al., 2005; De Greef et al., 2006; Wilkinson et al., 2006; Beldie et al., 2010; Popat et al., 2010, 2012; Richmond et al., 2012; Al Ali et al., 2014a; Shrimpton et al., 2014; Farnell et al., 2017; Richmond S. et al., 2018). A number of Scottish people have a wavy texture to their hair. J. Craniofac. Phenotype-specific enrichment of Mendelian disorder genes near GWAS regions across 62 complex traits. Reconstr. (2012). Epigenetic predictor of age. Nat. Identification of five novel genetic loci related to facial morphology by genome-wide association studies. Lancet 374, 17731785. N. Sharman (London: BBC One, BBC), 2 minutes. Eur. Am. Investigating the case of human nose shape and climate adaptation. The FaceBase consortium: a comprehensive resource for craniofacial researchers. Genet. C Embryo Today 84, 1629. doi: 10.1371/journal.pgen.1006174, Cole, J. U.S.A. 115, E676E685. 143, 845854. Most modern Celts have dark hair and a red beard. For example, there is evidence that nose shape has been under historical selection in certain climates (Weiner, 1954; Zaidi et al., 2017). Transgenerational epigenetics and brain disorders. doi: 10.1016/j.schres.2003.08.003, Hochheiser, H., Aronow, B. J., Artinger, K., Beaty, T. H., Brinkley, J. F., Chai, Y., et al. Hu, D., and Helms, J. Previous studies have identified genes associated with both nsCL/P and facial phenotypes; such as variation in MAFB which is associated with face width in normal variation (Beaty et al., 2010, 2013; Boehringer et al., 2011; Liu et al., 2012; Peng et al., 2013; Shaffer et al., 2016). The genome is comprised of 3.2 billion nucleotides wrapped in octomeric units of histones (chromatin). The developing fetus may be subject to adverse environments at home, in the workplace or through lifestyle activities (smoking, alcohol and drug intake, allergens, paint, pest/weed control, heavy metals, cleaning, body products such as perfumes and creams). Oral Med. 115, 561597. 396, 159168. Sci. But light eyes and freckles are much more common. doi: 10.1371/journal.pone.0093442, Lange, S., Shield, K., Koren, G., Rehm, J., and Popova, S. (2014). (2012). Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate. Am. Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders. Traditionally yes they were certainly different in appearance - but there has been so much intermingling the differences have become very blurred. The influence of asthma on face shape: a three-dimensional study. 41, 161176. doi: 10.1542/peds.2015-4256. Nat. The development of the face involves a coordinated complex series of embryonic events. doi: 10.1371/journal.pgen.1007501, Howe, L. J., Richardson, T. G., Arathimos, R., Alvizi, L., Passos-Bueno, M.-R., Stanier, P., et al. Indeed, modern day Latin Americans have mixed African, European and Native American ancestry, with genetic admixture highly predictive of physical appearance. Table of Contents Are hazel eyes Irish? Pflugers. Biol. doi: 10.1126/science.1243518, Hemani, G., Tilling, K., and Smith, G. D. (2017). Different genetic models, genotyping and imputation techniques have been employed and the between-study heterogeneity should be considered. Genome-wide association study reveals multiple loci influencing normal human facial morphology. WebDiscover the Northern Irish accent. Genet. Sci. In addition, genetic and environmental factors will have subtle influences on the face. Trans. Illustrated review of the embryology and development of the facial region, part 2: late development of the fetal face and changes in the face from the newborn to adulthood. PLoS One 10:e0118355. doi: 10.1520/JFS2004251, Suttie, M., Wozniak, J. R., Parnell, S. E., Wetherill, L., Mattson, S. N., Sowell, E. R., et al. Facial shape and features are the result of mutations, genetic drift, recombination and natural selection. Epigenet 2:dvw020. Dent. The faces are narrow, you might say hollow. A 123a, 211230. Am. Simultaneous advances in genotyping technology have enabled the exploration of genetic influences on facial phenotypes, both in the present day and across human history. DNA methylation mediates genetic liability to non-syndromic cleft lip/palate. 2. Forensic Sci. Int. Surg. doi: 10.1111/ipd.12072, Attanasio, C., Nord, A. S., Zhu, Y., Blow, M. J., Li, Z., Liberton, D. K., et al. Res. WebSlinte is the basic form in Irish. One possibility is that these variants may influence facial phenotypes through gene regulation pathways involving epigenetic processes. However, large-scale population studies are needed to identify more genetic variants not only in the context of facial shape but general body development with particularly attention to puberty. 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 Detailing Patient Specific Modeling to Aid Clinical Decision Making. bioRxiv, Gibney, E., and Nolan, C. (2010). A previous orofacial cleft GWAS found no clear evidence for enrichment of tissue-specific signals, concluding that this may be attributable to a lack of suitable tissue types (Leslie et al., 2017). 46, 753758. This includes high cheekbones, a bent nose, reddish brown skin tone and coarse, dark hair. 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. The soft tissue facial variation has been explored in a large Caucasian population of 15-year-old children (2514 females and 2233 males) recruited from the Avon Longitudinal Study of Parents and Children (ALSPAC). Plast. Res. 10:e1004224. Multiethnic GWAS reveals polygenic architecture of earlobe attachment. WebIrish Ceili Dancing. A three-dimensional analysis of the effect of atopy on face shape. The role of sonic hedgehog in normal and abnormal craniofacial morphogenesis. doi: 10.1097/00001665-200201000-00024, Farnell, D. J. J., Galloway, J., Zhurov, A., Richmond, S., Perttiniemi, P., and Katic, V. (2017). 22, e1e4. doi: 10.1002/ajmg.a.31760. 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). New developments in: three-dimensional planning for orthognathic surgery. 81, 351370. In particular, the strong effects that genetic variation can have on facial appearance are highlighted by historical portraits of the European royal family, the Habsburgs (14381740). J. Orthod. doi: 10.1016/0002-9416(82)90073-2, Rivezzi, G., Piscitelli, P., Scortichini, G., Giovannini, A., Diletti, G., Migliorati, G., et al. Indeed, there is evidence to suggest that high levels of prenatal alcohol exposure can influence facial morphology; individuals with fetal alcohol syndrome disorders can present with facial abnormalities (Hoyme et al., 2016) as well as other developmental anomalies such as caudate nucleus asymmetry and reduced mass of the brain (Suttie et al., 2018). doi: 10.1016/j.fsigen.2018.04.004, Claes, P., Liberton, D. K., Daniels, K., Rosana, K. M., Quillen, E. E., Pearson, L. N., et al. Future work could utilize meditation techniques (Tobi et al., 2018) or Mendelian randomization (Relton and Davey Smith, 2012) to formally investigate the possibility that prenatal exposures influence orofacial cleft risk via epigenetic processes. Int. Scottish women tend to be proportionately curvy. Human skin pigmentation as an adaptation to UV radiation. Scottish food and Irish food are similar in many respects. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. (2017). Understanding the face will explain why we look the way we do a range of normality and abnormality that will be useful in healthcare applications and forensic science. 11, 180185. The term Gaelic, as a language, applies only to the language of Scotland. (2009). This initiative has been facilitated by the availability of low-cost hi-resolution three-dimensional systems which have the ability to capture the facial details of thousands of individuals quickly and accurately.