Association between craniofacial morphological patterns and tooth agenesis-related genes

Rodrigues, Amanda Silva; Teixeira, Ellen Cardoso; Antunes, Leonardo Santos; Nelson‐Filho, Paulo; Cunha, Arthur S; Levy, Simone Carvalho; Araújo, Mônica Tirre de Souza; Ramos, Alice Gomes de Carvalho; Cruz, Giuseppe Valduga; Omori, Marjorie Ayumi; Matsumoto, Mírian Aiko Nakane; Vieira, Alexandre R.; Küchler, Érika Calvano; Marañón‐Vásquez, Guido Artemio

doi:10.1186/s40510-020-00309-5

Cited by 16 publications

(14 citation statements)

References 43 publications

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“…Studies in different models point out that the proper postnatal growth and development of craniofacial structures (including bone, muscles and teeth) requires the coordination of many mechanisms. The growth and development of craniofacial structures involves the precise timing of migration of different cell types, coordinated displays of differentiation development and growth of tissues and also the interaction of different molecules 21,26‐28 …”

Section: Discussionmentioning

confidence: 99%

“…The growth and development of craniofacial structures involves the precise timing of migration of different cell types, coordinated displays of differentiation development and growth of tissues and also the interaction of different molecules. 21,[26][27][28] Results provided by twin studies have been increasing our knowledge on hereditability and genetically determined variables of maxilla and mandible position, shape, size and their relationship with the cranial base. 3,4 In the past decades, many genetic studies have been evaluating the association between different genes and maxillary/mandibular discrepancies as well as face morphology [15][16][17][18][19][20][21][22] These molecular genetic studies have mainly focused on skeletal class III and prognathism phenotypes.…”

Section: Discussionmentioning

confidence: 99%

“…21,[26][27][28] Results provided by twin studies have been increasing our knowledge on hereditability and genetically determined variables of maxilla and mandible position, shape, size and their relationship with the cranial base. 3,4 In the past decades, many genetic studies have been evaluating the association between different genes and maxillary/mandibular discrepancies as well as face morphology [15][16][17][18][19][20][21][22] These molecular genetic studies have mainly focused on skeletal class III and prognathism phenotypes. 17 More recently, some studies expanded the craniofacial phenotypes evaluated, including other sagittal and vertical patterns 16,[18][19][20][21][22] Therefore, in the present study, we decided to evaluate sagittal and vertical craniofacial phenotypes and each dental arch separately, in order to evaluate whether any gene/SNP acts in the maxilla, mandible or both jaws discrepancies.…”

Section: Discussionmentioning

confidence: 99%

“…Single‐nucleotide polymorphisms (SNPs) are the most frequent variations in the human genome. SNPs in many genes were associated with different skeletal malocclusion phenotypes in different populations 15‐22 . Therefore, in this study we investigated SNPs in bone‐ and cartilage‐related genes in the aetiology of sagittal and vertical skeletal malocclusions.…”

Section: Introductionmentioning

confidence: 99%

“…SNPs in many genes were associated with different skeletal malocclusion phenotypes in different populations. [15][16][17][18][19][20][21][22] Therefore, in this study we investigated SNPs in bone-and cartilage-related genes in the aetiology of sagittal and vertical skeletal malocclusions.…”

Section: Introductionmentioning

confidence: 99%

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Potential interactions among single nucleotide polymorphisms in bone‐ and cartilage‐related genes in skeletal malocclusions

Küchler¹,

Reis

Carelli

et al. 2020

Orthod Craniofacial Res

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Objective To investigate SNPs in bone‐ and cartilage‐related genes and their interaction in the aetiology of sagittal and vertical skeletal malocclusions. Settings and sample population This study included 143 patients and classified as follows: skeletal class I (n = 77), class II (n = 47) and class III (n = 19); maxillary retrusion (n = 39), protrusion (n = 52) and well‐positioned maxilla (n = 52); mandibular retrognathism (n = 50), prognathism (n = 50) and well‐positioned mandible (n = 43); normofacial (n = 72), dolichofacial (n = 55) and brachyfacial (n = 16). Materials and methods Steiner's ANB, SNA, SNB angles and Ricketts’ NBa‐PtGn angle were measured to determine the skeletal malocclusion and the vertical pattern. Nine SNPs in BMP2, BMP4, SMAD6, RUNX2, WNT3A and WNT11 were genotyped. Chi‐squared test was used to compare genotypes among the groups. Multifactor dimensionality reduction (MDR) and binary logistic regression analysis, both using gender and age as co‐variables, were also used. We performed Bonferroni correction for multiple testing. Results Significant associations at P < .05 were observed for SNPs rs1005464 (P = .042) and rs235768 (P = .021) in BMP2 with mandibular retrognathism and for rs59983488 (RUNX2) with maxillary protrusion (P = .04) as well as for rs708111 (WNT3A) with skeletal class III (P = .02; dominant model), rs1533767 (WNT11) with a brachyfacial skeletal pattern (P = .01, OR = 0.10; dominant model) and for rs3934908 (SMAD6) with prognathism (P = .02; recessive model). After the Bonferroni correction, none of the SNPs remained associated. The MDR predicted some interaction for skeletal class II, dolichofacial and brachyfacial phenotypes. Conclusion Our results suggest that SNPs in BMP2, BMP4, SMAD6, RUNX2, WNT3A and WNT11 could be involved in the aetiology of sagittal and vertical malocclusions.

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Section: Discussionmentioning

confidence: 99%