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Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile
by
Scariot, Rafaela
, Küchler, Erika Calvano
, Matsumoto, Mirian Aiko Nakane
, Stuani, Maria Bernadete Sasso
, Romano, Fábio Lourenço
, Schroder, Angela Graciela Deliga
, Reis, Caio Luiz Bitencourt
, Kirschneck, Christian
, Nelson-Filho, Paulo
, Beisel-Memmert, Svenja
in
Adolescent
/ Age
/ Analysis
/ Biology and Life Sciences
/ Bone Development - genetics
/ Bone morphogenetic protein 2
/ Bone Morphogenetic Protein 2 - genetics
/ Cbfa-1 protein
/ Child
/ Core Binding Factor Alpha 1 Subunit - genetics
/ Craniofacial growth
/ Evaluation
/ Face - anatomy & histology
/ Face - diagnostic imaging
/ Female
/ Genes
/ Genetic factors
/ Genotype & phenotype
/ Genotyping
/ Guardians
/ Humans
/ Male
/ Medicine and Health Sciences
/ Multivariate analysis
/ Nucleotides
/ Orthodontics
/ Patients
/ Polymerase chain reaction
/ Polymorphism, Single Nucleotide
/ Real time
/ Research and Analysis Methods
/ Saliva
/ Single nucleotide polymorphisms
/ Single-nucleotide polymorphism
/ Synergistic effect
/ Thermal cycling
/ Transcription factors
/ Young Adult
2024
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Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile
by
Scariot, Rafaela
, Küchler, Erika Calvano
, Matsumoto, Mirian Aiko Nakane
, Stuani, Maria Bernadete Sasso
, Romano, Fábio Lourenço
, Schroder, Angela Graciela Deliga
, Reis, Caio Luiz Bitencourt
, Kirschneck, Christian
, Nelson-Filho, Paulo
, Beisel-Memmert, Svenja
in
Adolescent
/ Age
/ Analysis
/ Biology and Life Sciences
/ Bone Development - genetics
/ Bone morphogenetic protein 2
/ Bone Morphogenetic Protein 2 - genetics
/ Cbfa-1 protein
/ Child
/ Core Binding Factor Alpha 1 Subunit - genetics
/ Craniofacial growth
/ Evaluation
/ Face - anatomy & histology
/ Face - diagnostic imaging
/ Female
/ Genes
/ Genetic factors
/ Genotype & phenotype
/ Genotyping
/ Guardians
/ Humans
/ Male
/ Medicine and Health Sciences
/ Multivariate analysis
/ Nucleotides
/ Orthodontics
/ Patients
/ Polymerase chain reaction
/ Polymorphism, Single Nucleotide
/ Real time
/ Research and Analysis Methods
/ Saliva
/ Single nucleotide polymorphisms
/ Single-nucleotide polymorphism
/ Synergistic effect
/ Thermal cycling
/ Transcription factors
/ Young Adult
2024
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Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile
by
Scariot, Rafaela
, Küchler, Erika Calvano
, Matsumoto, Mirian Aiko Nakane
, Stuani, Maria Bernadete Sasso
, Romano, Fábio Lourenço
, Schroder, Angela Graciela Deliga
, Reis, Caio Luiz Bitencourt
, Kirschneck, Christian
, Nelson-Filho, Paulo
, Beisel-Memmert, Svenja
in
Adolescent
/ Age
/ Analysis
/ Biology and Life Sciences
/ Bone Development - genetics
/ Bone morphogenetic protein 2
/ Bone Morphogenetic Protein 2 - genetics
/ Cbfa-1 protein
/ Child
/ Core Binding Factor Alpha 1 Subunit - genetics
/ Craniofacial growth
/ Evaluation
/ Face - anatomy & histology
/ Face - diagnostic imaging
/ Female
/ Genes
/ Genetic factors
/ Genotype & phenotype
/ Genotyping
/ Guardians
/ Humans
/ Male
/ Medicine and Health Sciences
/ Multivariate analysis
/ Nucleotides
/ Orthodontics
/ Patients
/ Polymerase chain reaction
/ Polymorphism, Single Nucleotide
/ Real time
/ Research and Analysis Methods
/ Saliva
/ Single nucleotide polymorphisms
/ Single-nucleotide polymorphism
/ Synergistic effect
/ Thermal cycling
/ Transcription factors
/ Young Adult
2024
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Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile
Journal Article
Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile
2024
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Overview
The vertical facial profile is a crucial factor for facial harmony with significant implications for both aesthetic satisfaction and orthodontic treatment planning. However, the role of single nucleotide polymorphisms (SNPs) in the development of vertical facial proportions is still poorly understood. This study aimed to investigate the potential impact of some SNPs in genes associated with craniofacial bone development on the establishment of different vertical facial profiles. Vertical facial profiles were assessed by two senior orthodontists through pre-treatment digital lateral cephalograms. The vertical facial profile type was determined by recommended measurement according to the American Board of Orthodontics. Healthy orthodontic patients were divided into the following groups: “Normodivergent” (control group), “Hyperdivergent” and “Hypodivergent”. Patients with a history of orthodontic or facial surgical intervention were excluded. Genomic DNA extracted from saliva samples was used for the genotyping of 7 SNPs in RUNX2 , BMP2 , BMP4 and SMAD6 genes using real-time polymerase chain reactions (PCR). The genotype distribution between groups was evaluated by uni- and multivariate analysis adjusted by age (alpha = 5%). A total of 272 patients were included, 158 (58.1%) were “Normodivergent”, 68 (25.0%) were “Hyperdivergent”, and 46 (16.9%) were “Hypodivergent”. The SNPs rs1200425 ( RUNX2 ) and rs1005464 ( BMP2 ) were associated with a hyperdivergent vertical profile in uni- and multivariate analysis (p-value < 0.05). Synergistic effect was observed when evaluating both SNPs rs1200425- rs1005464 simultaneously (Prevalence Ratio = 4.0; 95% Confidence Interval = 1.2–13.4; p-value = 0.022). In conclusion, this study supports a link between genetic factors and the establishment of vertical facial profiles. SNPs in RUNX2 and BMP2 genes were identified as potential contributors to hyperdivergent facial profiles.
Publisher
Public Library of Science,Public Library of Science (PLoS)
Subject
/ Age
/ Analysis
/ Bone morphogenetic protein 2
/ Bone Morphogenetic Protein 2 - genetics
/ Child
/ Core Binding Factor Alpha 1 Subunit - genetics
/ Female
/ Genes
/ Humans
/ Male
/ Medicine and Health Sciences
/ Patients
/ Polymorphism, Single Nucleotide
/ Research and Analysis Methods
/ Saliva
/ Single nucleotide polymorphisms
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