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Archives of Biomedical Sciences ISSN: 2300-7257 REVIEW Genetic basis of mandibular prognathism AgataTomaszewska *1 ,2, Przemysław Kopczyński 1 , Rafał Flieger1 ABSTRACT Mandibular prognathism is one of the craniofacial bone defects, characterised by excessive forward growth of the mandible often accompanied by maxillary undergrowth, causing occlusion disorders. Detailed understanding and accurate etiological analysis of that defect are essential in the further treatment process. Long-standing observations indicate that mandibular prognathism is genetically determined. This paper aims to outline the information about the genetic basis of that defect and analyses the most recent findings concerning the impact of the identified mutations and polymorphisms in various genes involved in the incidence and development of mandibular prognathism. Key Words: Craniofacial Growth; Genetics; Mutation; Malocclusion; Orthodontic Treatment. INTRODUCTION Mandibular prognathism, also known as progenism, is a developmental disorder of the craniofacial area. It is characterised by irregularities of the shape, size and positional relationship of individual bones. The defect is characterised by excessive forward growth of the mandible often accompanied by maxillary undergrowth, causing occlusion disorders. They manifest as full mesial occlusion with a distinctive reverse overjet of the incisors and two-sided buccal occlusion. Mandibular prognathism is also characterised by extended corpus mandibulae and excessively obtuse angle of the mandible, reflected in the facial features by smoothing of the mentolabial fold and chin protrusion Correspondence: * [email protected] 1 The Centre for Orthodontic Mini-implants of the Chair and Clinic of Maxillofacial Orthopaedics and Orthodontics, Poznań University of Medical Sciences, Bukowska 70, str., 60-81 2 Poznań, Poland 2 The Chair and Department of Biochemistry and Molecular Biology, Poznań University of Medical Sciences, Poland beyond the coronal plane [1 , 2]. The defect occurs in ca. 0.5-4% of the Caucasian population, whereas the frequency in the Asian race is much higher, i.e. 5-1 0%. Etiopathogenesis of mandibular prognathism is quite complex. Developmental disorders are caused primarily by genetic and environmental factors. The environmental factors comprise, first of all, external determinants present especially during the first 3 months of the pregnancy, i.e. both hypoxia, ionizing radiation, nutrition deficiency and metabolic and hormonal disorders of the mother [3, 4]. The purpose of the work is to analyse the most recent scientific findings concerning the genetic basis of mandibular prognathism. MATERIALS AND METHODS The analysed material comprised publications from the last 20 years found in the library resources. The search criterion were the following phrases: mandibular prognathism, malocclusion, mutations, Received: November 04, 201 3; Accepted: November 1 5, 201 3; Published: November 1 8, 201 3 Copyright: © 201 3 Author(s). Archives of Biomedical Sciences © 201 3 T.M.Karpiński. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Archives of Biomedical Sciences 201 3, Volume 1 , Issue 2, pp. 1 6-1 9 16 Tomaszewska et al. Genetic basis of mandibular prognathism polymorphisms, orthodontic treatment. Finally, 20 publications were chosen for analysis. REVIEW It has been observed that mandibular prognathism may be an isolated defect or a complication related to the co-occurring morphological and functional disorders. It is believed that the defect is autosomal dominant with incomplete penetration or autosomal recessive and the heritability ratio has been estimated at h 2=0.31 6. It is also postulated that the mutations and polymorphisms responsible for mandibular prognathism may occur. Given the above, a hypothesis about polygenic inheritance of that defect has been put forward. Studies conducted on twins indicated that in the case of monozygotic twins the morphological mandibular prognathism occurs in both children six times as often as in dizygotic twins [5, 6]. Genetic causes of mandibular prognathism have not been fully analysed yet. Nevertheless, high interest and will to discover the etiology of that defect allowed to select a dozen or so chromosomal regions and to analyse genetic markers related to the development of the defect. The main candidate chromosomal regions associated with mandibular prognathism comprise the loci located on the following chromosomes: - 1 (1 p22.1 , 1 p22.2, 1 p36), - 3 (3q26.2), - 4 (4p1 6) - 5 (5p1 3-p1 2), - 6 (6q25), - 11 (11 q22.2-q22.3), - 1 2 (1 2q23, 1 2q1 3.1 3), - 1 4 (1 4q24-q31 ) - 1 9 (1 9p1 3.2). The recent years have seen enormous development in the genetic methods employing modern technologies and allowing for a concurrent analysis of hundreds of thousands genetic polymorphisms located across the genome (the so-called GWAS – genome-wide association studies). The objective of GWAS is to verify the relations between the selected candidate genes and their impact on the studied trait. The studies allow to identify the genetic risk factors of commonly occurring diseases. As a result of the clinical observation conducted on the Japanese and Korean populations by the Yamaguchi team, the decision was taken to study the entire genome (Genome-wide Linkage Analysis). Segregation analysis allowed to identify the most probable chromosomal loci associated with the incidence of mandibular prognathism. As a result, the following regions were selected: 1 p35-36, 5p1 3, 6q25 and 1 9p1 3 [7]. In the case of the research conducted on the Chinese Han population, regions 1 p36, 4p1 6 and 1 4q24-31 were selected [8, 9]. The studies on the Hispanic cohort conducted by the FrazierBowers team indicated regions 1 p22, 3q26, 11 q22, 1 2q1 3 and 1 2q23 [1 0]. Some of the genes in those loci have been put forward as potential genetic markers (perlecan, cartilage matrix protein 1 , alkaline phosphatase, erythrocyte membrane protein band 4.1 , growth hormone receptor, transforming growth factor beta 3, latent transforming growth factor beta binding protein 2, Ellis-van Creveld syndrome protein (EVC), EVC2, insulin-like growth factor 1 , homeobox genes, and collagen type II alpha 1 ) [11 ]. It is suspected that mutations or polymorphisms occurring in such genes may have a considerable effect on the incidence of mandibular prognathism. To-date the several mutations and polymorphisms have been confirmed in the genes encoding specific growth factors and other signalling molecules involved in the bone and cartilage morphogenesis of the craniofacial area. Growth factors and cytokines belong to local released mediators, affecting the target cells through specific receptors, stimulating the cells to proliferate, differentiate and increase the gene expression as well as to further secrete biologicallyimportant substances. As it was shown in the tests conducted by the Rabie et al. research team [1 2, 1 3], excessive forward mandibular growth is related to the increased expression of Ihh and PTHrP, promoting differentiation of mesenchymal stem cells into specialised bone and cartilage cells as well as their further proliferation; such proteins, as mediators of mechanotransduction, promote increased cartilage growth. The growth factor VEGF and transcription factors SOX9 and RUNX2 hold an essential role in the differentiation of chondrocytes, therefore they are potential markers in searching for the genetic causes of mandibular prognathism. The most recent findings indicate presumably important role of HSPG2, MATN1 and ALPL in development of irregularities in the growth of the cartilage and bone Archives of Biomedical Sciences 201 3, Volume 1 , Issue 2, pp. 1 6-1 9 17 Tomaszewska et al. Genetic basis of mandibular prognathism tissues of the craniofacial area [1 4, 1 5]. Another genetic factor taken into account when looking for the reasons behind mandibular prognathism is the receptor of the growth hormone, having the key role in the development of the bone structures and morphogenesis of the craniofacial area. Studies carried out on the Japanese population confirm strong correlation between variant Pro561 Thr in the growth hormone receptor (GHR) and incidence of mandibular prognathism [1 6]. The research conducted by the Nikopensius et al [1 7] allowed to identify the missense mutation c.545C>T (p.Ser1 82Phe) in gene DUSP6. A variant of that gene co-segregates with the incidence of the disease with autosomal dominant inheritance with incomplete penetration. Another highly interesting research carried out on the Korean population suggests a significant role of the identified polymorphisms of the SNP type in gene MATN1 [1 8]. On the other hand, TassopoulouFishell et al direct attention to fairly important variants of the gene encoding myosin 1 H (MYO1H), associated with the development of mandibular prognathism [1 9]. Also the reports on identified SNP polymorphisms in gene erythrocyte membrane protein band 4.1 (EPB41) show a strong relation between 4 variants of that gene and progenism [20]. CONCLUSION To sum up, the results of many studies have shown that both genetic and environmental factors contribute to incidence of mandibular prognathism. Detailed understanding and accurate analysis of the genetic causes of that defect is of key importance for further treatment and stability of the effects of the applied multi-disciplinary treatment. The above findings confirm the polygenetic basis of mandibular prognathism, therefore the studies focused on identification of factors involved in its incidence constitute a crucial element. TRANSPARENCY DECLARATION The authors declare no conflicts of interest. REFERENCES 1 . Maszczyk L, Pawlus B, Truszel M. Teleradiographic assessment of the skull facial structures in morphological prognathism [in Polish]. Ann Soc Doctr Stud Med Siles. 2000; 26: 259-265. 2. Kopczyński P, Flieger R, Turska-Malińska R. Current views on the possibility of anterior defects treating literature review [in Polish]. Art Dent. 201 3; 11 (3): 21 4-21 7. 3. Mossey PA, Orth D, Orth M. The heritability of malocclusion: Part 1 - Genetics, principles and terminology. Br J Orthod. 1 999; 26: 1 03-11 3. 4. Mossey PA, Orth D, Orth M. The heritability of malocclusion: part 2. The influence of genetics in malocclusion. Br J Orthod. 1 999; 26: 1 95-203. 5. Cruz RM, Krieger H, Ferreira R, Mah J, Hartsfield Jr, et al. Major gene and multifactorial inheritance of mandibular prognathism. Am J Med Genet A. 2008; 1 46: 71 -77. 6. Wolff G, Wienker TF, Sander H. On the genetics of mandibular prognathism: analysis of large European noble families. J Med Genet. 1 993; 30: 11 2-11 6. 7. Yamaguchi T, Park SB, Narita Maki K, Inoue I. Genomewide linkage analysis of mandibular prognathism in Korean and Japanese patients. J Dent Res. 2005; 84: 255-259. 8. Li Q, Zhang F, Li X, Chen F. Genome scan for locus involved in mandibular prognathism in pedigrees from China. PLoS ONE. 201 0; 5(9): e1 2678. 9. Li Q, Zhang F, Li X, Chen F. The Identification of a novel locus for mandibular prognathism in the Han Chinese population. J Dent Res. 2011 ; 90(1 ): 53-57. 1 0. Frazier-Bowers S, Rincon-Rodriguez R, Zhou J, Alexander K, Lange E. Evidence of linkage in a Hispanic cohort with a Class III dentofacial phenotype. J Dent Res. 2009; 88(1 ): 56-60. 11 . Xue F, Wong RW, Rabie ABM. Genes, genetics, and Class III malocclusion. Orthod Craniofac Res. 201 0; 1 3: 69-74. 1 2. Rabie AB, Tang GH, Xiong H, Hagg U. PTHrP regulates chondrocyte maturation in condylar cartilage. J Dent Res. 2003; 82: 627-631 . 1 3. Tang GH, Rabie AB, Hagg U. Indian hedgehog: a mechanotransduction mediator in condylar cartilage. J Dent Res. 2004; 83: 434-438. 1 4. Pei M, Luo J, Chen Q. Enhancing and maintaining chondrogenesis of synovial fibroblasts by cartilage extracellular matrix protein matrilins. Osteoarthritis Cartilage. 2008; 6: 111 0-111 7. 1 5. Hu JC, Simmer JP. Developmental biology and genetics of dental malformations. Orthod Craniofac Res. 2007; 1 0: 45-52. 1 6. Yamaguchi T, Maki K, Shibasaki Y. Growth hormone receptor gene variant and mandibular height in Archives of Biomedical Sciences 201 3, Volume 1 , Issue 2, pp. 1 6-1 9 18 Tomaszewska et al. Genetic basis of mandibular prognathism 1 7. 1 8. 1 9. 20. normal Japanese population. Am J Orthod Dentofacial Orthop. 2001 ; 11 9: 650-653. Nikopensius T, Saag M, Jagomägi T, Annilo T, Kals M, Kivistik PA, et al. A missense mutation in DUSP6 is associated with class III malocclusion. J Dent Res. 201 3; 92(1 0): 893-898. Jang JY, Park EK, Ryoo HM, Shin HI, Kim TH, Jang JS, et al. Polymorphisms in the matrilin-1 gene and risk of mandibular prognathism in Koreans. J Dent Res. 201 0; 89(11 ): 1 203-1 207. Tassopoulou-Fishell M, Deeley K, Harvey EM, Sciote J, Vieira AR. Genetic variation in Myosin 1 H contributes to mandibular prognathism. Am J Orthod Dentofacial Orthop. 201 2; 1 41 : 51 -59. Xue F, Wong R, Rabie AB. Identification of SNP markers on 1 p36 and association analysis of EPB41 with mandibular prognathism in a Chinese population. Arch Oral Biol. 201 0, 55: 867-872. Archives of Biomedical Sciences 201 3, Volume 1 , Issue 2, pp. 1 6-1 9 19