Methods in Genetic Analysis for Evaluation Mandibular Shape and Size Variations in Human Mandible.
Journal
The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410
Informations de publication
Date de publication:
Historique:
pubmed:
20
4
2021
medline:
4
1
2022
entrez:
19
4
2021
Statut:
ppublish
Résumé
The human mandible has been investigated from both clinical and evolutionary perspectives. Recent advances in genome science have identified the genetic regulation of human mandibular shape and size. Identification of genes that regulate mandibular shape and size would not only enhance our understanding of the mechanisms of mandibular growth and development but also help define a strategy to prevent mandibular dysplasia. This review provides a comprehensive summary of why and how the mandible was evaluated in the human mandible genome study. The variation in human mandibular shape and size has been progressively clarified, not only by focusing on the mandible alone but also by using extremely diverse approaches. The methods of data acquisition for evaluating human mandibular shape and size variation are well established. Furthermore, this review explains how to proceed with future research.
Identifiants
pubmed: 33867516
doi: 10.1097/SCS.0000000000007686
pii: 00001665-900000000-92649
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
e97-e101Informations de copyright
Copyright © 2021 by Mutaz B. Habal, MD.
Déclaration de conflit d'intérêts
The authors report no conflicts of interest.
Références
Adel M, Yamaguchi T, Tomita D, et al. Contribution of FGFR1 variants to craniofacial variations in East Asians. PLoS One 2017; 12:e0170645.
Pokhojaev A, Avni H, Sella-Tunis T, et al. Changes in human mandibular shape during the Terminal Pleistocene-Holocene Levant. Sci Rep 2019; 9:8799.
Sella-Tunis T, Pokhojaev A, Sarig R, et al. Human mandibular shape is associated with masticatory muscle force. Sci Rep 2018; 8:6042.
Holton NE, Bonner LL, Scott JE, et al. The ontogeny of the chin: an analysis of allometric and biomechanical scaling. J Anat 2015; 226:549–559.
Broadbent BH. A new x-ray technique and its application to orthodontia. Angle Orthod 1931; 51:93–114. Angle Orthod. I: 45-66. Reprinted in (1981).
Hofrath H. Die bedeutung der roentgenfernund abstandsauf- nahme fur die diagnostik der kieteranomalien. Fortschritte der Kieferorthopädie 1931; 1:232–258.
Ludlow JB, Gubler M, Cevidanes L, et al. Precision of cephalometric landmark identification: cone-beam computed tomography vs conventional cephalometric views. Am J Orthod Dentofacial Orthop 2009; 136:312.e1–312.e10.
Kasai K. Soft tissue adaptability to hard tissues in facial profiles. Am J Orthod Dentofacial Orthop 1998; 113:674–684.
Heil A, Lazo Gonzalez E, Hilgenfeld T, et al. Lateral cephalometric analysis for treatment planning in orthodontics based on MRI compared with radiographs: a feasibility study in children and adolescents. PLoS One 2017; 12:e0174524.
Yamaguchi T, Maki K, Shibasaki Y. Growth hormone receptor gene variant and mandibular height in the normal Japanese population. Am J Orthod Dentofacial Orthop 2001; 119:650–653.
Trpkova B, Prasad NG, Lam EW, et al. Assessment of facial asymmetries from posteroanterior cephalograms: validity of reference lines. Am J Orthod Dentofacial Orthop 2003; 123:512–520.
Chung K, Richards T, Nicot R, et al. ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders. Am J Orthod Dentofacial Orthop 2017; 152:631–645.
Toma AM, Zhurov A, Playle R, et al. Reproducibility of facial soft tissue landmarks on 3D laser-scanned facial images. Orthodo Craniofac Res 2009; 12:33–42.
Adhikari K, Fontanil T, Cal S, et al. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Comm 2016; 7:10815.
Claes P, Liberton DK, Daniels K, et al. Modeling 3D facial shape from DNA. PLoS Genet 2014; 10:e1004224.
Cole JB, Manyama M, Kimwaga E, et al. Genomewide association study of African children identifies association of SCHIP1 and PDE8A with facial size and shape. PLoS Genet 2016; 12:e1006174.
Crouch DJM, Winney B, Koppen WP, et al. Genetics of the human face: identification of large-effect single gene variants. Proc Natl Acad Sci U S A 2018; 115:E676–E685.
Paternoster L, Zhurov AI, Toma AM, et al. Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position. Am J Hum Genet 2012; 90:478–485.
Shaffer JR, Orlova E, Lee MK, et al. Genome-wide association study reveals multiple loci influencing normal human facial morphology. PLoS Genet 2016; 12:e1006149.
Adhikari K, Fuentes-Guajardo M, Quinto-Sánchez M, et al. A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nat Comm 2016; 7:11616.
Claes P, Roosenboom J, White JD, et al. Genome-wide mapping of global-to-local genetic effects on human facial shape. Nat Genet 2018; 50:414–423.
Venkatesh E, Elluru SV. Cone beam computed tomography: basics and applications in dentistry. J Istanb Univ Fac Dent 2017; 51: (3 Suppl 1): S102–S121.
American Dental Association Council on Scientific Affairs. The use of cone-beam computed tomography in dentistry: an advisory statement from the American Dental Association Council on Scientific Affairs. J Am Dent Assoc 2012; 143:899–902.
Weaver CA, Miller SF, da Fontoura CS, et al. Candidate gene analyses of 3-dimensional dentoalveolar phenotypes in subjects with malocclusion. Am J Orthod Dentofacial Orthop 2017; 151:539–558.
Deguchi T Sr, Katashiba S, Inami T, et al. Morphologic quantification of the maxilla and the mandible with cone-beam computed tomography. Am J Orthod Dentofacial Orthop 2010; 137:218–222.
Nakawaki T, Yamaguchi T, Isa M, et al. Growth hormone receptor gene variant and three-dimensional mandibular morphology. Angle Orthod 2017; 87:68–73.
Nolte JW, Verhoeven TJ, Schreurs R, et al. 3-Dimensional CBCT analysis of mandibular asymmetry in unilateral condylar hyperplasia. J Craniomaxillofac Surg 2016; 44:1970–1976.
Moreno Uribe LM, Miller SF. Genetics of the dentofacial variation in human malocclusion. Orthod Craniofac Res 2015; 18:91–99.
Adhikari K, Reales G, Smith AJ, et al. A genome-wide association study identifies multiple loci for variation in human ear morphology. Nat Comm 2015; 6:7500.
Boehringer S, van der Lijn F, Liu F, et al. Genetic determination of human facial morphology: links between cleft-lips and normal variation. Eur J Hum Genet 2011; 19:1192–1197.
Liu F, van der Lijn F, Schurmann C, et al. A genome-wide association study identifies five loci influencing facial morphology in Europeans. PLoS Genet 2012; 8:e1002932.
Windhager S, Schaschl H, Schaefer K, et al. Variation at genes influencing facial morphology are not associated with developmental imprecision in human faces. PLoS One 2014; 9:e99009.
Bosman AM, Moisik SR, Dediu D, et al. Talking heads: morphological variation in the human mandible over the last 500 years in the Netherlands. Homo 2017; 68:329–342.
Kang EH, Yamaguchi T, Tajima A, et al. Association of the growth hormone receptor gene polymorphisms with mandibular height in a Korean population. Arch Oral Biol 2009; 54:556–562.
Küchler EC, Nascimento MAD, Matsumoto MAN, et al. Genetic polymorphism in RANK is associated with mandibular size. J Orthod 2018; 45:157–162.
Sasaki Y, Satoh K, Hayasaki H, et al. The P561T polymorphism of the growth hormone receptor gene has an inhibitory effect on mandibular growth in young children. Eur J Orthod 2009; 31:536–541.
Tomoyasu Y, Yamaguchi T, Tajima A, et al. Further evidence for an association between mandibular height and the growth hormone receptor gene in a Japanese population. Am J Orthod Dentofacial Orthop 2009; 136:536–541.
Zhou J, Lu Y, Gao XH, et al. The growth hormone receptor gene is associated with mandibular height in a Chinese population. J Dent Res 2005; 84:1052–1056.
Joshi N, Hamdan AM, Fakhouri WD. Skeletal malocclusion: a developmental disorder with a life-long morbidity. J Clin Med Res 2014; 6:399–408.
Guan X, Song Y, Ott J, et al. The ADAMTS1 gene is associated with familial mandibular prognathism. J Dent Res 2015; 94:1196–1201.
Yamaguchi T, Park SB, Narita A, et al. Genome-wide linkage analysis of mandibular prognathism in Korean and Japanese patients. J Dent Res 2005; 84:255–259.
Liu H, Wu C, Lin J, et al. Genetic etiology in nonsyndromic mandibular prognathism. J Craniofac Surg 2017; 28:161–169.
Li Q, Li X, Zhang F, et al. The identification of a novel locus for mandibular prognathism in the Han Chinese population. J Dent Res 2011; 90:53–57.
Cruz RM, Krieger H, Ferreira R, et al. Major gene and multifactorial inheritance of mandibular prognathism. Am J Med Genet A 2008; 146A:71–77.
Moreno Uribe LM, Ray A, Blanchette DR, et al. Phenotype-genotype correlations of facial width and height proportions in patients with Class II malocclusion. Orthod Craniofac Res 2015; 18: (Suppl 1): 100–108.
Noble J, Karaiskos N, Wiltshire WA. Diagnosis and clinical management of patients with skeletal class III dysplasia. Gen Dent 2007; 55:543–547.
da Fontoura CS, Miller SF, Wehby GL, et al. Candidate gene analyses of skeletal variation in malocclusion. J Dent Res 2015; 94:913–920.
Miller SF, Weinberg SM, Nidey NL, et al. Exploratory genotype-phenotype correlations of facial form and asymmetry in unaffected relatives of children with non-syndromic cleft lip and/or palate. J Anat 2014; 224:688–709.
Yamada K, Saito I, Hanada K, et al. Observation of three cases of temporomandibular joint osteoarthritis and mandibular morphology during adolescence using helical CT. J Oral Rehabil 2004; 31:298–305.
Michalowicz BS, Pihlstrom BL, Hodges JS, et al. No heritability of temporomandibular joint signs and symptoms. J Dent Res 2000; 79:1573–1578.
Visscher CM, Lobbezoo F. TMD pain is partly heritable. A systematic review of family studies and genetic association studies. J Oral Rehabil 2015; 42:386–399.
Djordjevic J, Zhurov AI, Richmond S. Visigen Consortium. Genetic and environmental contributions to facial morphological variation: a 3D population-based twin study. PLoS One 2016; 11:e0162250.
Kimura R, Yamaguchi T, Takeda M, et al. A common variation in EDAR is a genetic determinant of shovel-shaped incisors. Am J Hum Genet 2009; 85:528–535.
Kimura R, Watanabe C, Kawaguchi A, et al. Common polymorphisms in WNT10A affect tooth morphology as well as hair shape. Hum Mol Genet 2015; 24:2673–2680.
Park JH, Yamaguchi T, Watanabe C, et al. Effects of an Asian-specific nonsynonymous EDAR variant on multiple dental traits. J Hum Genet 2012; 57:508–514.
Tomita D, Yamaguchi T, Nakawaki T, et al. Interferon regulatory factor 6 variants affect nasolabial morphology in East Asian populations. Arch Oral Biol 2018; 85:142–147.
Frazier-Bowers S, Rincon-Rodriguez R, Zhou J, et al. Evidence of linkage in a Hispanic cohort with a Class III dentofacial phenotype. J Dent Res 2009; 88:56–60.
Li Q, Zhang F, Li X, et al. Genome scan for locus involved in mandibular prognathism in pedigrees from China. PLoS One 2010; 5:e12678.
Xue F, Wong R, Rabie AB. Identification of SNP markers on 1p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population. Arch Oral Biol 2010; 55:867–872.
Jang JY, Park EK, Ryoo HM, et al. Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans. J Dent Res 2010; 89:1203–1207.
Tassopoulou-Fishell M, Deeley K, Harvey EM, et al. Genetic variation in myosin 1H contributes to mandibular prognathism. Am J Orthod Dentofacial Orthop 2012; 141:51–59.
Nikopensius T, Saag M, Jagomägi T, et al. A missense mutation in DUSP6 is associated with Class III malocclusion. J Dent Res 2013; 92:893–898.
Ikuno K, Kajii TS, Oka A, et al. Microsatellite genome-wide association study for mandibular prognathism. Am J Orthod Dentofacial Orthop 2014; 145:757–762.
Xue F, Rabie AB, Luo G. Analysis of the association of COL2A1 and IGF-1 with mandibular prognathism in a Chinese population. Orthod Craniofac Res 2014; 17:144–149.
Bayram S, Basciftci FA, Kurar E. Relationship between P561T and C422F polymorphisms in growth hormone receptor gene and mandibular prognathism. Angle Orthod 2014; 84:803–809.
Perillo L, Monsurrò A, Bonci E, et al. Genetic association of ARHGAP21 gene variant with mandibular prognathism. J Dent Res 2015; 94:569–576.
Chen F, Li Q, Gu M, et al. Identification of a mutation in FGF23 involved in mandibular prognathism. Sci Rep 2015; 5:11250.
Arun RM, Lakkakula BV, Chitharanjan AB. Role of myosin 1H gene polymorphisms in mandibular retrognathism. Am J Orthod Dentofacial Orthop 2016; 149:699–704.
Xiong X, Li S, Cai Y, et al. Targeted sequencing in FGF/FGFR genes and association analysis of variants for mandibular prognathism. Medicine (Baltimore) 2017; 96:e7240.