Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns

Cunha, Arthur S; Filho, Paulo Nelson; Marañón‐Vásquez, Guido Artemio; Ramos, Alice Gomes de Carvalho; Dantas, Beatriz; Sebastiani, Aline Monise; Silverio, F. Di; Omori, Marjorie Ayumi; Rodrigues, Amanda Silva; Teixeira, Ellen Cardoso; Levy, Simone Carvalho; Araújo, Marcelo Calvo de; Matsumoto, Mírian Aiko Nakane; Romano, Fábio Lourenço; Antunes, Lívia Azeredo Alves; Costa, Delson João da; Scariot, Rafaela; Vieira, Alexandre R.

doi:10.1016/j.archoralbio.2018.09.018

Cited by 40 publications

(36 citation statements)

References 33 publications

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“…However, this will require future research, larger samples, and collaborative multicenter studies 5 to better understand the differences between regions and environmental factors involved. To reach this point, and bearing in mind that the distribution and frequencies of some specific genetic variations can differ substantially between different populations 39 , it is imperative to obtain an accurate and precise classification in the sub-phenotype diagnosis of each population and/or ethnic group. The present research offers significant data on skeletal class III malocclusion sub-phenotyping in subjects of southern European origin.…”

Section: Discussionmentioning

confidence: 99%

Sub-clustering in skeletal class III malocclusion phenotypes via principal component analysis in a southern European population

Frutos-Valle

Martín

Alarcón

et al. 2020

Sci Rep

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The main aim of this study was to generate an adequate sub-phenotypic clustering model of class III skeletal malocclusion in an adult population of southern European origin. The study design was conducted in two phases, a preliminary cross-sectional study and a subsequent discriminatory evaluation by main component and cluster analysis to identify differentiated skeletal sub-groups with differentiated phenotypic characteristics. Radiometric data from 699 adult patients of southern European origin were analyzed in 212 selected subjects affected by class III skeletal malocclusion. The varimax rotation was used with Kaiser normalization, to prevent variables with more explanatory capacity from affecting the rotation. A total of 21,624 radiographic measurements were obtained as part of the cluster model generation, using a total set of 55 skeletal variables for the subsequent analysis of the major component and cluster analyses. Ten main axes were generated representing 92.7% of the total variation. Three main components represented 58.5%, with particular sagittal and vertical variables acting as major descriptors. Post hoc phenotypic clustering retrieved six clusters: C1:9.9%, C2:18.9%, C3:33%, C4:3.77%, C5:16%, and C6:16%. In conclusion, phenotypic variation was found in the southern European skeletal class III population, demonstrating the existence of phenotypic variations between identified clusters in different ethnic groups.

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Section: Discussionmentioning

confidence: 99%

Sub-clustering in skeletal class III malocclusion phenotypes via principal component analysis in a southern European population

Frutos-Valle

Martín

Alarcón

et al. 2020

Sci Rep

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“…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%

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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“…Five hundred and ninety-four orthodontic patients (mean age = 23.1; 238 males, 356 females) from private and graduate orthodontic clinics in Rio de Janeiro (n = 325), São Paulo (n = 140), and Amazonas cities (n = 129) were selected following convenience sampling. Location setting and ethnic composition of each city were already described in previous studies [24,25]. Patients with one of the following conditions were excluded: previous orthodontic treatment, medical systemic conditions, craniofacial congenital or syndromic anomalies, permanent teeth lost or extracted, and previous facial trauma.…”

Section: Methodsmentioning

confidence: 99%

Association between craniofacial morphological patterns and tooth agenesis-related genes

et al. 2020

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Background: The aim of the present study was to assess if genetic polymorphisms in tooth agenesis (TA)-related genes are associated with craniofacial morphological patterns. Methods: This cross-sectional, multi-center, genetic study evaluated 594 orthodontic Brazilians patients. The presence or absence of TA was determined by analysis of panoramic radiography. The patients were classified according to their skeletal malocclusion and facial growth pattern by means of digital cephalometric analysis. Genomic DNA was extracted from squamous epithelial cells of buccal mucosa and genetic polymorphisms in MSX1 (rs1042484), PAX9 (rs8004560), TGF-α (rs2902345), FGF3 (rs1893047), FGF10 (rs900379), and FGF13 (rs12838463, rs5931572, and rs5974804) were genotyped by polymerase chain reaction using TaqMan chemistry and end-point analysis. Results: Genotypes (p = 0.038) and allele (p = 0.037) distributions for the FGF3 rs1893047 were significantly different according to the skeletal malocclusion. Carrying at least one G allele increased in more than two times the chance of presenting skeletal class III malocclusion (OR = 2.21, CI 95% = 1.14-4.32; p = 0.017). There was no association between another skeletal craniofacial pattern and some polymorphism assessed in the present study. Conclusion: Our results suggest that the genetic polymorphism rs1893047 in FGF3 might contribute to variations in the craniofacial sagittal pattern.

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Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns

Cited by 40 publications

References 33 publications

Sub-clustering in skeletal class III malocclusion phenotypes via principal component analysis in a southern European population

Sub-clustering in skeletal class III malocclusion phenotypes via principal component analysis in a southern European population

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

Association between craniofacial morphological patterns and tooth agenesis-related genes

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