Investigation of Genetic Polymorphisms in BMP2, BMP4, SMAD6, and RUNX2 and Persistent Apical Periodontitis

Küchler, Érika Calvano; Hannegraf, Natascha Douat; Lara, Rafaela Mariana de; Reis, Caio Luiz Bitencourt; Oliveira, Daniela Silva Barroso de; Mazzi‐Chaves, Jardel Francisco; Andrades, Kesly Mary Ribeiro; Lima, Lorena Ferreira de; Salles, Alessandro Guimarães; Antunes, Lívia Azeredo Alves; Sousa-Neto, Manoel Damião; Baratto‐Filho, Flares

doi:10.1016/j.joen.2020.11.014

Cited by 16 publications

(11 citation statements)

References 34 publications

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“…Genes associated with bone morphogenetic and developmental processes have also been associated with PD. In particular, in the case of persistent apical periodontitis, Single nucleotide polymorphisms (SNPs) in the BMP2, BMP4, SMAD6, and RUNX2 genes were significantly associated and suggested epistatic interactions, in particular SNP-SNP interactions leading to important increased risk (odds ratios up to 4.36 in the high risk genotypes) (Küchler et al, 2021 ).…”

Section: Biological Aspects Of Periodontal Inflammationmentioning

confidence: 99%

Periodontal Inflammation and Systemic Diseases: An Overview

2021

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Periodontitis is a common inflammatory disease of infectious origins that often evolves into a chronic condition. Aside from its importance as a stomatologic ailment, chronic periodontitis has gained relevance since it has been shown that it can develop into a systemic condition characterized by unresolved hyper-inflammation, disruption of the innate and adaptive immune system, dysbiosis of the oral, gut and other location's microbiota and other system-wide alterations that may cause, coexist or aggravate other health issues associated to elevated morbi-mortality. The relationships between the infectious, immune, inflammatory, and systemic features of periodontitis and its many related diseases are far from being fully understood and are indeed still debated. However, to date, a large body of evidence on the different biological, clinical, and policy-enabling sources of information, is available. The aim of the present work is to summarize many of these sources of information and contextualize them under a systemic inflammation framework that may set the basis to an integral vision, useful for basic, clinical, and therapeutic goals.

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Section: Biological Aspects Of Periodontal Inflammationmentioning

confidence: 99%

Periodontal Inflammation and Systemic Diseases: An Overview

2021

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“…Briefly, our results add novel information regarding the genetic contribution to mandibular retrognathism etiology suggesting rs3087465 (-834A/G) in TGFBR2 as candidate gene, additionally to the previously genes suggested in studies from different populations: MYO1H [ 5 ], MATN1 [ 4 ], BMP2 [ 7 ], ADAMTS9 [ 6 ], PTH , VDR , CYP24A1 , and CYP27B1 [ 8 ]. Once our understanding of the nature of the genetic influences improves, we will be able to provide a clearer idea of how genes and environmental factors interact to influence mandibular retrognathism in humans.…”

Section: Discussionmentioning

confidence: 52%

“…This condition has a strong genetic background and some genes have been associated with mandibular retrognathism in humans from different populations in past years [ 3 – 6 ]. Some previous studies associated mandibular retrognathism with genetic polymorphisms in genes encoding Myosin IH ( MYO1H ) [ 5 ], Matrilin 1 ( MATN1 ) [ 4 ], bone morphogenetic protein 2 ( BMP2 ) [ 7 ], ADAM metallopeptidase with thrombospondin type 1 motif 9 ( ADAMTS9 ) [ 6 ], and parathyroid hormone ( PTH ) and the vitamin-D-related genes: vitamin D receptor ( VDR ), cytochrome P450 family 24 subfamily A member 1 ( CYP24A1 ), and cytochrome P450 family 27 subfamily B member 1 ( CYP27B1 ) [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

Transforming Growth Factor Beta Receptor 2 (TGFBR2) Promoter Region Polymorphisms May Be Involved in Mandibular Retrognathism

Kirschneck

Zbidat

Paddenberg

et al. 2022

BioMed Research International

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Skeletal malocclusions are common phenotypes in humans and have a strong influence on genetic factors. Transforming growth factor beta (TGFβ) controls numerous functions of the human body, including cell proliferation, differentiation, and migration. Thus, this study is aimed at evaluating whether genetic polymorphisms in TGFB1 and its receptor TGFBR2 are associated with mandibular retrognathism in German children and adolescents. Children and teenagers older than 8 years in the mixed or permanent dentition were included in this study. Patients with syndromes and facial trauma and patients with congenital alterations were excluded. Digital cephalometric tracings were performed using the anatomical landmarks point A, point B, sella (S), and nasion (N). Patients that have a retrognathic mandible ( SNB < 78 °) were selected as case group, and the patients with an orthognathic mandible ( SNB = 78 °– 82°) were selected as the control group. Genomic deoxyribonucleic acid (DNA) from saliva was used to evaluate four genetic polymorphisms in TGFB1 (rs1800469 and rs4803455) and TGBR2 (rs3087465 and rs764522) using real-time PCR. Chi-square or Fisher exact tests were used to compare gender, genotype, and allele distribution among groups. Genotype distribution was calculated in an additive and recessive model. Haplotype analysis was also performed. The established alpha of this study was 5%. A total of 146 patients (age ranging from 8 to 18 years) were included in this epidemiological genetic study. The genetic polymorphism rs3087465 in TGFBR2 was associated with mandibular retrognathism. Carrying the AA genotype in the rs3087465 polymorphism decreased the chance of having mandibular retrognathism ( odds ratio = 0.25 , confidence interval 95 % = 0.06 to 0.94, p = 0.045 ). None of the haplotypes was associated with mandibular retrognathism ( p > 0.05 ). In conclusion, we found that the genetic polymorphism rs3087465 in the promoter region of the TGFBR2 was associated with mandibular retrognathism in Germans.

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“…In recent years, interactions between chronic AP and genetic polymorphisms in genes linked to inflammation and bone metabolism processes have been proposed and investigated by several research groups (Antunes et al, 2021; De Souza et al, 2019; Jakovljevic et al, 2020; Küchler et al, 2021; Mazzi‐chaves et al, 2018; Petean et al, 2019; Salles et al, 2017; Torres et al, 2020). In this sense, the literature highlights the association of genetic components in the establishment, progression, maintenance and repair of AP, since genetic polymorphisms are biological modifiers of each individual that can trigger different immune responses when challenged by microbial infestations, as in the case of AP (Aminoshariae & Kulild, 2015).…”

Section: Discussionmentioning

confidence: 99%

Genetic polymorphism in the tumour necrosis factor alpha gene (G‐308A) is associated with persistent apical periodontitis in Brazilians

et al. 2022

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Aim: To investigate if there was an association between genetic polymorphisms in tumour necrosis factor (TNF)-⍺ and its receptors TNFRSF1A and TNFRSF1B with persistent apical periodontitis (PAP) in Brazilian subjects. Methodology:Patients who had pulpal necrosis and apical periodontitis at the time of treatment, with at least 1-year of follow-up after non-surgical root canal treatment were recalled. Three hundred and seventy eight subjects were included, 150 subjects with signs/symptoms of PAP and 228 subjects with root canal-treated teeth exhibiting healthy perirradicular tissues (healed). Genomic DNA was extracted from saliva and used for TNF-⍺ (rs1800629), TNFRSF1A (rs1800693) and TNFRSF1B (rs1061622) genotyping by real-time PCR. Genotypes and alleles frequencies were evaluated by c2 or Fisher's exact tests and odds ratios were implemented (α = 5%). Results:The genetic polymorphism in TNF-α (rs1800629) was associated as a protective factor for the development of PAP (p < .05), once subjects who presented at least one allele A (AA+AG X GG), had a higher chance to lesion repair (p < .05). The polymorphisms rs1800693 and rs1061622 in TNF receptors (TNFRSF1A and TNFRSF1B, respectively) were not associated with the development of PAP (p > .05). Conclusions:The observed results demonstrate that polymorphism in TNF-α but not in its receptors is associated with PAP.

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Investigation of Genetic Polymorphisms in BMP2, BMP4, SMAD6, and RUNX2 and Persistent Apical Periodontitis

Cited by 16 publications

References 34 publications

Periodontal Inflammation and Systemic Diseases: An Overview

Periodontal Inflammation and Systemic Diseases: An Overview

Transforming Growth Factor Beta Receptor 2 (TGFBR2) Promoter Region Polymorphisms May Be Involved in Mandibular Retrognathism

Genetic polymorphism in the tumour necrosis factor alpha gene (G‐308A) is associated with persistent apical periodontitis in Brazilians

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