Determination of TNF-a Gene Polymorphisms on Skeletal Pattern in Class II Malocclusion

Levy, Simone Carvalho; Antunes, Lívia Azeredo Alves; Abreu, Júlia Guimarães Barcellos de; Nascimento, Júllia Assis da Silva; Kuntz, Ana Carolina; Fialho, Walter Luis Soares; Rodrigues, Amanda Silva; Teixeira, Ellen Cardoso; Calasans-Maia, José de Albuquerque; Araújo, Marcelo Calvo de; Küchler, Érika Calvano

doi:10.1590/0103-6440201902367

Cited by 5 publications

(6 citation statements)

References 18 publications

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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%

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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: 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%

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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“…Skeletal Class II malocclusion etiology is considered to be multifactorial, in which both genetic and environmental factors play a role in its development. Maxillary and/or mandibular retrusion, also referred as retrognathism, are a common finding of genetic syndromes and conditions, for example, Pierre‐Robin, DiGeorge, Nager, Mobius syndromes (Jenzer & Schlam, 2020; Levy et al, 2019). There are no previous studies in the literature with ASMD individuals to compare these cephalometric findings.…”

Section: Discussionmentioning

confidence: 99%

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

Bender

Silveira

Santos

et al. 2020

American J of Med Genetics Pt A

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The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (n = 8) with chronic ASMD. The individuals underwent oral examinations to evaluate the occurrence of caries, as well as full-mouth periodontal examinations, to assess the occurrence and severity of periodontal diseases. Panoramic and profile radiographs were obtained to analyze dental conditions and craniofacial parameters. Participants also answered questionnaires to identify systemic impairment, parafunctional habits, and bruxism. Dental anomalies of size, shape, and number were found, with agenesis and microdontia being the predominant findings. The average of caries experience was 11.75 (±8.1). Only one patient had periodontal health and all adult individuals had periodontitis at different stages and degrees. Bruxism was found in 87.5% of the sample. The convex profile and maxillary and mandibular retrusion were the most relevant findings in the cephalometric analysis. It is concluded that individuals with chronic ASMD, in addition to several systemic manifestations, present significant modifications in their oral health, from a greater occurrence of dental anomalies, caries, periodontal disease, in addition to skeletal changes. K E Y W O R D S acid sphingomyelinase deficiency, caries, craniofacial anomalies, dental anomalies, periodontal disease 1 | INTRODUCTION Acid sphingomyelinase deficiency (ASMD) is a rare autosomal recessive genetic disease that results from mutations in the Sphingomyelinphosphodiesterase 1 (SMPD1) gene located in region p.15.4 of chromosome 11, which causes deficiency of the enzyme acid sphingomyelinase (ASM) (Schuchman & Desnick, 2001; Spence & Callahan, 1989). ASM deficiency results in intracellular toxic accumulation of sphingomyelin, mainly in cells of the mononuclear phagocytic system (Wasserstein et al., 2004; Wasserstein, Godbold, & Mcgovern, 2013). This disease affects adults and children and has a wide spectrum of severity. ASMD is progressive and may reduce life expectancy (Mcgovern, Avetisyan, Sanson, & Lidove, 2017). ASMD is also known as Niemann-Pick disease and is subclassified into an acute neurovisceral form (previously known as Niemann-Pick type A-NPA) and chronic visceral (previously known as Niemann-Pick type B-NPB. A chronic form

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“…Recent studies [84] have identified members of the TNF-α family and their receptors, as essential regulators of osteoclastogenesis. RANKL/RANK signaling regulates the formation of osteoclasts including bone modeling and remodeling.…”

Section: Genes Involved In Facial Bone Growthmentioning

confidence: 99%

“…Environmental factors play an especially important role in the development of a patient's morphofacial changes [84]. Among these factors there are functional etiological factors such as deleterious mouth habits and mouth breathing.…”

Section: F Environmental Factors Of Open Bitementioning

confidence: 99%

Genetic And Environmental Factors Involved In The Development Of Oral Malformations Such As Cleft Lip/Palate In Non-Syndromic Patients And Open Bite Malocclusion

Leal

Lemos

Costa

et al. 2020

EJMED

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Among the most common malformations observed in the oral cavity are cleft lip/palate and malocclusions, being this last one considered by the World Health Organization, the third public health problem.Malocclusions include the anterior open bite, a change in the vertical plane, that can be of two types: dental anterior open bite and skeletal anterior open bite. Cleft lip and cleft palate are the most common congenital malformations at birth. These malformations result from a failure in the normal craniofacial development process, which requires the coordination of a complex series of events. From the embryological point of view, the cleft lip/palate is a consequence of the failure of the first superior branchial arch to complete fusion with the frontonasal process during pregnancy.All these malformations result from the interaction of both genetic and environmental factors. Among the environmental factors involved in the development of malocclusions are deleterious habits, mouth breathing and trauma. Several genes involved in the development of facial bones, muscles and teeth are also responsible for the development of malocclusions. In the same way, clefts development is a multifactorial trait where multiple genes are involved as well as environmental factor like alcohol consumption, tobacco, exposure to pesticides or toxic solvents, in a complex interaction.All these factors may jeopardize the normal functioning of the stomatognathic system and the consequent quality of life of the patient. The purpose of this study was to review the literature concerning the genetic and environmental aspects involved in the development of these malformations.

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Determination of TNF-a Gene Polymorphisms on Skeletal Pattern in Class II Malocclusion

Cited by 5 publications

References 18 publications

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

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

Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency

Genetic And Environmental Factors Involved In The Development Of Oral Malformations Such As Cleft Lip/Palate In Non-Syndromic Patients And Open Bite Malocclusion

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