Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile.

Caio Luiz Bitencourt Reis; Mirian Aiko Nakane Matsumoto; Maria Bernadete Sasso Stuani; F&#xe1;bio Louren&#xe7;o Romano; Rafaela Scariot; Angela Graciela Deliga Schroder; Paulo Nelson-Filho; Christian Kirschneck; Svenja Beisel-Memmert; Erika Calvano K&#xfc;chler

doi:10.1371/journal.pone.0303551

PubMed · 38771832

Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile.

Caio Luiz Bitencourt Reis·Mirian Aiko Nakane Matsumoto·Maria Bernadete Sasso Stuani·Fábio Lourenço Romano·Rafaela Scariot·Angela Graciela Deliga Schroder·Paulo Nelson-Filho·Christian Kirschneck·Svenja Beisel-Memmert·Erika Calvano Küchler

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Abstract

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.

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Polymorphism, Single Nucleotide Core Binding Factor Alpha 1 Subunit Bone Morphogenetic Protein 2 Face Orthodontics Humans Male Female Child Adolescent Young Adult Bone Development Journal Article Research Support, Non-U.S. Gov't

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Caio Luiz Bitencourt Reis, Mirian Aiko Nakane Matsumoto, Maria Bernadete Sasso Stuani, Fábio Lourenço Romano, Rafaela Scariot, Angela Graciela Deliga Schroder, Paulo Nelson-Filho, Christian Kirschneck, Svenja Beisel-Memmert, Erika Calvano Küchler. 2024-05-21. Single Nucleotide Polymorphisms in RUNX2 and BMP2 contributes to different vertical facial profile.. https://doi.org/10.1371/journal.pone.0303551

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