Heritability of face shape in twins: a preliminary study using 3D stereophotogrammetry and geometric morphometrics

Seth M. Weinberg, Trish E. Parsons, Mary L. Marazita, Brion S. Maher

Abstract


Introduction: Previous research suggests that aspects of facial surface morphology are heritable.  Traditionally, heritability studies have used a limited set of linear distances to quantify facial morphology and often employ statistical methods poorly designed to deal with biological shape.  In this preliminary report, we use a combination of 3D photogrammetry and landmark-based morphometrics to explore which aspects of face shape show the strongest evidence of heritability in a sample of twins.

Methods: 3D surface images were obtained from 21 twin pairs (10 monozygotic, 11 same-sex dizygotic).  Thirteen 3D landmarks were collected from each facial surface and their coordinates subjected to geometric morphometric analysis.  This involved superimposing the individual landmark configurations and then subjecting the resulting shape coordinates to a principal components analysis.  The resulting PC scores were then used to calculate rough narrow-sense heritability estimates.

Results: Three principal components displayed evidence of moderate to high heritability and were associated with variation in the breadth of orbital and nasal structures, upper lip height and projection, and the vertical and forward projection of the root of the nose due to variation in the position of nasion.

Conclusions: Aspects of facial shape, primarily related to variation in length and breadth of central midfacial structures, were shown to demonstrate evidence of strong heritability. An improved understanding of which facial features are under strong genetic control is an important step in the identification of specific genes that underlie normal facial variation.


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References


Genetic determinants of cranio-facial morphology: a twin study. Nakata M, Yu PL, Davis B, Nance WE. Ann Hum Genet 1974;37:431-43.

Multivariate analysis of craniofacial measure-ments in twin and family data. Nakata M, Yu PL, Nance WE. Am J Phys Anthropol 1974;41:423-9.

A family study of craniofacial dimensions in the Burlington Growth Center sample. Saunders SR, Popovich F, Thompson GW. Am J Orthod 1980;78:394-403.

Sibling correlations for cranial measurements from serial radiographs. Byard PJ, Lewis AB, Ohtsuki F, Siervogel RM, Roche AF. J Craniofac Genet Dev Biol 1984;4:265-9.

Craniofacial morphology and occlusal variation in monozygotic and dizygotic twins. Lobb WK. Angle Orthodont 1987;57:219-33.

Comparison of some cephalometric distances and corresponding facial proportions with regard to heritability. Lundstrom A, McWilliam J. Eur J Orthod 1988;10:27-9.

Heritability of craniometric and occlusal variables: a longitudinal sib analysis. Harris EF, Johnson MG. Am J Orthod Dentofacial Orthop 1991;99:258-68.

Heritability of cephalometric and occlusal variables as assessed from siblings with overt malocclusions. King L, Harris EF, Tolley EA. Am J Orthod Dentofacial Orthop 1993;104:121-31.

Heritability of 39 orthodontic cephalometric parameters on MZ, DZ twins and MN-paired singletons. Manfredi C, Martina R, Grossi GB, Giuliani M. Am J Orthod Dentofacial Orthop 1997;111:44-51.

A genetic study of anteroposterior and vertical facial proportions using model-fitting. Savoye I, Loos R, Carels C, Derom C, Vlietinck R. Angle Orthodont 1998;68:467-70.

A quantitative genetic study of cephalometric variables in twins. Carels C, Van Cauwenberghe N, Savoye I, et al. Orthod Craniofacial Res 2001;4:130-40.

Heritability of craniofacial characteristics between parents and offspring from lateral cephalograms. Johannsdottir B, Thorarinsson F, Thordarson A, Magnusson TE. Am J Orthod Dentofacial Orthop 2005;127:200-7.

Maximum likelihood estimation of human craniometric heritabilities. Carson EA. Am J Phys Anthropol 2006;131:169-80.

Heritability of facial proportions and soft-tissue profile characteristics in Turkish Anatolian siblings. Baydaş B, Erdem A, Yavuz I, Ceylan I. Am J Orthod Dentofacial Orthop 2007;131:504-9.

Quantitative genetics of modern human cranial variation. Sherwood RJ, Duren DL, Demerath EW, Czerwinski SA, Siervogel RM, Towne B. J Hum Evol 2008;54:909-14.

Heritability of human cranial dimensions: comparing the evolvability of different cranial regions. Martínez-Abadías N, Esparza M, Sjøvold T, González-José R, Santos M, Hernández M. J Anat 2009;214:19-35.

Correlation of brothers in factor scores. Howells WW. Am J Phys Anthropol 1953;11:121-40.

The heritability of certain anthropometric characters as ascertained from measurements of twins. Clark PJ. Am J Hum Genet 1956;8:49-54.

Genetic Basis of Morphological Variation. Osborne RH, De George FV. Cambridge: Harvard University Press; 1959.

A comparison of identical and fraternal twins on some anthropometric measures.Vandenberg SG, Strandskov HH. Hum Biol 1964;36:45-52.

Genetic and environmental influences on morphological characteristics. Susanne C. Ann Hum Biol 1975;2:279-87.

Heritability of anthropometric characters. Susanne C. Hum Biol 1977;49:573-80.

A family study of anthropometric traits in a Punjabi community: II. An investigation of fa-milial transmission. Byard PJ, Sharma K, Russell JM, Rao DC. Am J Phys Anthropol 1984;64:97-104.

Family resemblance for components of craniofacial size and shape. Byard PJ, Poosha DVR, Satyanarayana M, Rao DC. J Craniofac Genet Dev Biol 1985;5:229-38.

Family resemblance for cranio-facial measurements in Velanti Brahmins from Andhra Pradesh, India. Poosha DV, Byard PJ, Satyanarayana M, Rice JP, Rao DC. Am J Phys Anthropol 1984;65:15-22.

A family study of anthropometric traits in a Punjabi community: I. Introduction and familial correlations. Sharma K, Byard PJ, Russell JM, Rao DC. Am J Phys Anthropol 1984;63:389-95.

Testing for the presence of genetic variance in factors of face measurements of Belgian twins. Hauspie RC, Susanne C, Defrise-Gussenhoven E. Ann Hum Biol 1985;12:429-40.

Transmissible and nontransmissible compo-nents of anthropometric variation in the Alexanderwohl Mennonites: I. Description and familial correlations. Devor EJ, McGue M, Crawford MH, Lin PM. Am J Phys Anthropol 1986;69:71-82.

Transmissible and nontransmissible compo-nents of anthropometric variation in the Alexanderwohl Mennonites: II. Resolution by path analysis. Devor EJ, McGue M, Crawford MH, Lin PM. Am J Phys Anthropol 1986;69:83-92.

Transmission of human craniofacial dimensions. Devor EJ. J Craniofac Genet Dev Biol 1987;7:95-106.

Genetics of human body size and shape: complex segregation analysis. Livshits G, Otremski I, Kobyliansky E. Ann Hum Biol 1995;22:13-27.

Similarities in anthropometrical traits of children and their parents in a Bulgarian population. Nikolova M. Ann Hum Genet 1996;60:517-25.

Heritability of anthropometric phenotypes in caste populations of Visakhapatnam, India. Arya R, Duggirala R, Comuzzie AG, Puppala S, Modem S, Busi BR, Crawford MH. Hum Biol 2002;74:325-44.

Quantitative genetic study of head size related phenotypes in ethnically homogeneous Chuvasha pedigrees. Ermakov S, Kobyliansky E, Livshits G. Ann Hum Biol 2005;32:585-98.

Genetic determination of head-size-related anthropometric traits in an ethnically homogeneous sample of 373 Indian pedigrees of West Bengal. Karmakar B, Ermakov S, Yakovenko K, Kobyliansky E. Hum Biol 2007;79:501-14.

Three-dimensional surface imaging: limitations and considerations from the anthropometric perspective. Weinberg SM, Kolar JC. J Craniofac Surg 2005;16:847-51.

Measuring adult facial morphology in three dimensions. Kau CH, Richmond S, Savio C, Mallorie C. Angle Orthodont 2006;76:771-6.

Intrapair facial differences in twins. Burke PH. Acta Genet Med Gemellol (Roma) 1989;38:37-47.

Three-dimensional assessment of the relative contribution of genetics and environment to various facial parameters with the twin method. Naini FB, Moss JP. Am J Orthod Dentofacial Orthop 2004;126:655-65.

Diagnosis of twin zygosity. Nichols RC, Bilbro WC. Acta Genet Stat Med 1966;16:265-75.

Pittsburgh Registry of Infant Multiplets (PRIM). Strassberg M, Peters K, Marazita M, et al. Twin Res 2002;5:499-501.

Environmental and genetics influence on dimensions of perceived parenting: a twin study. Rowe DC. Dev Psychol 1981;17:203-8.

Digital three-dimensional photogrammetry: evaluation of anthropometric precision and accuracy using a Genex 3D camera system. Weinberg SM, Scott NM, Neiswanger K, Brandon CA, Marazita ML. Cleft Palate Craniofac J 2004;41:507-18.

Anthropometric precision and accuracy of digital three-dimensional photogrammetry: comparing the Genex and 3dMD imaging systems to one another and to direct anthropometry. Weinberg SM, Naidoo S, Govier DP, Martin RA, Kane AA, Marazita ML. J Craniofac Surg 2006;17:477-83.

Anthropometry of the Head and Face. Farkas LG. New York: Raven Press; 1994.

Statistical Shape Analysis. Dryden IL, Mardia KV. Chichester: Wiley; 1998.

In: Slice DE, ed. Modern Morphometrics in Physical Anthropology. Slice DE. Modern morphometrics. New York: Kluwer Academ-ic/Plenum Publishers; 2005:1-45.

Extensions of the Procrustes method for the optimal superimposition of landmarks. Rohlf F, Slice D. Syst Zool 1990;39:40-59.

Geometric Morphometrics for Biologists: A Primer. Zelditch ML, Swiderski DL, Sheets HD, Fink WL. Amsterdam: Elsevier Academic Press; 2004.

Facial growth in Cercocebus torquantus: an application of three-dimensional geometric morphometric techniques to the study of morphological variation. O'Higgins P, Jones N. J Anat 1998;193:251-72.

Geometric morphometric study of the regional variation of modern human craniofacial form. Hennessy RJ, Stringer CB. Am J Phys Anthropol 2002;117:37-48.

MorphoJ: an integrated software package for geometric morphometrics. Klingenberg CP. Mol Ecol Resour 2011;11:353-7.

The investigation of the changing facial appearance of identical twins employing a three-dimensional laser imaging system. Kau CH, Zhurov A, Bibb R, Hunter L, Richmond S. Orthod Craniofacial Res 2005;8:85-90.

A study of the inheritance of craniofacial characteristics as seen in lateral cephalograms of 72 like-sexed twins. Hunter WS. Rep Congr Eur Orthod Soc 1965;41:59-70.

Pleiotropic effects of individual gene loci on mandibular morphology. Cheverud JM, Routman EJ, Irschick DJ. Evolution 1997;51:2006-16.

Quantitative trait loci for directional but not fluctuating asymmetry of mandibular charac-ters in mice. Leamy LJ, Pomp D, Eisen EJ, Cheverud JM. Genet Res 2000;76:27-40.

Genetic architecture of mandible shape in mice: effects of quantitative trait loci analyzed by geometric morphometrics. Klingenberg CP, Leamy LJ, Routman EJ, Cheverud JM. Genetics 2001;157:785-802.

ENU large-scale mutagenesis and quantitative trait linkage (QTL) analysis in mice: novel technologies for searching polygenetic determinants of craniofacial abnormalities. Nishimura I, Drake TA, Lusis AJ, Lyons KM, Nadeau JH, Zernik J. Crit Rev Oral Biol Med 2003;14:320-30.

A genome segment on mouse chromosome 12 determines maxillary growth. Oh J, Wang CJ, Poole M, et al. J Dent Res 2007;86:1203-6.

The canine homeobox gene MSX2: sequence, chromosome assignment and genetic analysis in dogs of different breeds. Haworth K, Breen M, Binns M, Hopkinson DA, Edwards YH. Anim Genet 2001;32:32-6.

Canine TCOF1; cloning, chromosome assign-ment and genetic analysis in dogs with different head types. Haworth KE, Islam I, Breen M, et al. Mamm Genome 2001;12:622-9.

Characterization of the genomic canine Fgf8 locus and screen for genetic variants in 4 dogs with different face types. Haworth KE, Healy C, McGonnell IM, Binns M, Sharpe PT. DNA Seq 2007;18:209-19.

Molecular origins of rapid and continuous morphological evolution. Fondon JW, Garner HR. Proc Natl Acad Sci USA 2004;101:18058-63.

Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. Paternoster L, Zhurov AI, Toma AM, Kemp JP, St Pourcain B, Timpson NJ, McMahon G, McArdle W, Ring SM, Smith GD, Richmond S, Evans DM. Am J Hum Genet 2012;90:478-85.

A genome-wide association study identifies five loci influencing facial morphology in Europeans.Liu F, van der Lijn F, Schurmann C, Zhu G, Chakravarty MM, Hysi PG, Wollstein A, Lao O, de Bruijne M, Ikram MA, van der Lugt A, Rivadeneira F, Uitterlinden AG, Hofman A, Niessen WJ, Homuth G, de Zubicaray G, McMahon KL, Thompson PM, Daboul A, Puls R, Hegenscheid K, Bevan L, Pausova Z, Medland SE, Montgomery GW, Wright MJ, Wicking C, Boehringer S, Spector TD, Paus T, Martin NG, Biffar R, Kayser M. PLoS Genet 2012;8:e1002932.




DOI: https://doi.org/10.5195/d3000.2013.14

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