Tooth agenesis-related GLI2 and GLI3 genes may contribute to craniofacial skeletal morphology in humans

Marañón‐Vásquez, Guido Artemio; Dantas, Beatriz; Kirschneck, Christian; Arid, Juliana; Cunha, Arthur S; Ramos, Alice Gomes de Carvalho; Omori, Marjorie Ayumi; Rodrigues, Amanda Silva; Teixeira, Ellen Cardoso; Levy, Simone Carvalho; Schroeder, Agnes; Matsumoto, Mírian Aiko Nakane; Proff, Peter; Antunes, Lívia Azeredo Alves; Vieira, Alexandre R.

doi:10.1016/j.archoralbio.2019.05.008

Cited by 13 publications

(11 citation statements)

References 63 publications

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“…Some previous studies have reported an association between TA and craniofacial morphological patterns [16][17][18][19][20][21][22][23], including retrognathic maxilla [18], class III skeletal malocclusion [18,22], and concave profile [21]. Additionally, our recent study demonstrated that TAassociated GLI2 and GLI3 genes might play a role in the development of skeletal malocclusions [24]. We therefore reaffirm the hypothesis that TA could share a similar genetic background with specific craniofacial morphologies or skeletal malocclusions, and that genetic polymorphisms on additional TA-associated genes may contribute to the establishment of both conditions.…”

Section: Introductionsupporting

confidence: 54%

“…The distribution of genotypes followed Hardy-Weinberg equilibrium (data not shown). Information regarding the association between skeletal malocclusion and TA was reported in a previous published paper [24]; individuals presenting class II skeletal malocclusion showed lower frequency of TA. There was no significant association between genotype/allele distributions and the presence of TA for any polymorphism assessed in the present study (p > 0.05) ( Table 2).…”

Section: Resultsmentioning

confidence: 99%

“…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%

“…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. Individuals were classified according to the presence/absence of TA, 5.22% presented agenesis of at least one permanent tooth, excluding third molars [24].…”

Section: Methodsmentioning

confidence: 99%

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Association between craniofacial morphological patterns and tooth agenesis-related genes

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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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Section: Introductionsupporting

confidence: 54%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Association between craniofacial morphological patterns and tooth agenesis-related genes

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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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Genetic variants in tooth agenesis–related genes might be also involved in tooth size variations

et al. 2020

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Tooth agenesis-related GLI2 and GLI3 genes may contribute to craniofacial skeletal morphology in humans

Cited by 13 publications

References 63 publications

Association between craniofacial morphological patterns and tooth agenesis-related genes

Association between craniofacial morphological patterns and tooth agenesis-related genes

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

Genetic variants in tooth agenesis–related genes might be also involved in tooth size variations

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