<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_aoj-2022-001_s_001"><h3>Background</h3><p>The present study investigated the association between <italic>the human growth hormone receptor (GHR)</italic> and <italic>collagen type II alpha 1 chain (COL2A1)</italic> gene polymorphism of malocclusions in patients presenting with a maxillary retrognathic-related Class III skeletal pattern and a mandibular prognathic-related Class III skeletal pattern.</p></sec><sec id="j_aoj-2022-001_s_002"><h3>Subjects</h3><p>The study was comprised of 255 subjects which included 85 patients who had a skeletal Class I (control group) and 170 patients who presented with a skeletal Class III pattern (study group). Of the 170 patients with a skeletal Class III identified by cephalometric analysis, 85 had maxillary retrognathism and 85 had mandibular prognathism.</p></sec><sec id="j_aoj-2022-001_s_003"><h3>Methods</h3><p>Extracted blood samples were assayed to identify genomic DNA which was subsequently followed by PCR and pyro-sequencing steps to determine single nucleotide polymorphisms (SNPs) in the <italic>GHR</italic> and <italic>COL2A1</italic> genes of the skeletal Class III patients. One-way analysis of variance (ANOVA) and two-sample <italic>t</italic> tests were performed to measure the quantitative variables in the intergroup comparisons. Pyro-sequencing described the allele frequencies and genotypes of the <italic>COL2A1</italic> gene SNP rs1793953, and the <italic>GHR</italic> gene SNPs rs6182 and rs6184 of each individual.</p></sec><sec id="j_aoj-2022-001_s_004"><h3>Results</h3><p>A relationship between the polymorphism of the <italic>GHR</italic> gene SNPs rs6182 and rs6184 and ramus height was determined in the mandibular prognathic group. No correlation was found between craniofacial properties and <italic>COL2A1</italic> polymorphism.</p></sec><sec id="j_aoj-2022-001_s_005"><h3>Conclusions</h3><p>The present study supports <italic>GHR</italic> as a candidate gene associated with a Class III skeletal pattern in the Turkish population. The <italic>COL2A1</italic> gene SNP rs1793953 was found to have no association with the sub-types of a Class III malocclusion.</p></sec></abstract>

BackgroundThe present study investigated the association between the human growth hormone receptor (GHR) and collagen type II alpha 1 chain (COL2A1) gene polymorphism of malocclusions in patients presenting with a maxillary retrognathic-related Class III skeletal pattern and a mandibular prognathic-related Class III skeletal pattern.SubjectsThe study was comprised of 255 subjects which included 85 patients who had a skeletal Class I (control group) and 170 patients who presented with a skeletal Class III pattern (study group). Of the 170 patients with a skeletal Class III identified by cephalometric analysis, 85 had maxillary retrognathism and 85 had mandibular prognathism.MethodsExtracted blood samples were assayed to identify genomic DNA which was subsequently followed by PCR and pyro-sequencing steps to determine single nucleotide polymorphisms (SNPs) in the GHR and COL2A1 genes of the skeletal Class III patients. One-way analysis of variance (ANOVA) and two-sample t tests were performed to measure the quantitative variables in the intergroup comparisons. Pyro-sequencing described the allele frequencies and genotypes of the COL2A1 gene SNP rs1793953, and the GHR gene SNPs rs6182 and rs6184 of each individual.ResultsA relationship between the polymorphism of the GHR gene SNPs rs6182 and rs6184 and ramus height was determined in the mandibular prognathic group. No correlation was found between craniofacial properties and COL2A1 polymorphism.ConclusionsThe present study supports GHR as a candidate gene associated with a Class III skeletal pattern in the Turkish population. The COL2A1 gene SNP rs1793953 was found to have no association with the sub-types of a Class III malocclusion.

Investigation of a genetic association of a class III skeletal pattern

Australasian Orthodontic Journal

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"Investigation of a genetic association of a class III skeletal pattern"}

BackgroundThe present study investigated the association between the human growth hormone receptor (GHR) and collagen type II alpha 1 chain (COL2A1) gene...

Investigation of a genetic association of a class III skeletal pattern

Article Category: research-article

Publié en ligne: 12 janv. 2022

Pages: 162 - 172

Reçu: 01 févr. 2022

Accepté: 01 avr. 2022

DOI: https://doi.org/10.21307/aoj-2022-001

© 2022 Begüm Tunasoylu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.