{"title":"Investigation of the Relationship Between ACTN3 rs1815739 Polymorphism and Openbite Cases: A Prospective Study.","authors":"Elif Aslıhan Yaylacı, Elvan Onem Ozbilen, Beste Tacal Aslan, Tolga Polat","doi":"10.1111/ocr.12886","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to examine whether ACTN3 rs1815739 polymorphism, which causes the deficiency of the alpha-actinin-3 muscle protein, is related to the formation of open bite malocclusion.</p><p><strong>Materials and methods: </strong>Fifty-eight participants (18.5 ± 3.6 years old) with anterior open bite (n = 29) and normal overbite (n = 29) who presented to Marmara University, Department of Orthodontics for treatment were included in the study. Initial cephalometric radiographs were used for the diagnosis of malocclusion. The case group was divided into three subgroups according to degree of open bite. For DNA isolation, oral epithelial cells were collected with buccal swabs (Van Allen Way, Carlsbad, USA), and the real-time PCR method was used for the genotyping of all polymorphisms. The results were statistically analysed, and the threshold for statistical significance was set at p < 0.05.</p><p><strong>Results: </strong>The frequencies of RR, RX and XX genotypes of ACTN3 rs1815739 polymorphism were found as 6 (20.7%), 14 (48.3%) and 9 (31.0%) in the control group and 8 (8%), 9 (31.0%) and 12 (41.4%) in the case group, respectively. There was no statistically significant difference between the groups in terms of the presence of the examined polymorphism (p > 0.05). However, the intra-group evaluation of case group revealed a significant difference in the prevalence of XX genotype (83.3%) for the subgroup with an open bite of -5 mm or above.</p><p><strong>Conclusion: </strong>Although no significant difference was observed between the case and control groups, a possible association was identified between ACTN3 rs1815739 polymorphism and an increased severity of open bite malocclusion.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orthodontics & Craniofacial Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/ocr.12886","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
引用次数: 0
Abstract
Objective: The aim of this study was to examine whether ACTN3 rs1815739 polymorphism, which causes the deficiency of the alpha-actinin-3 muscle protein, is related to the formation of open bite malocclusion.
Materials and methods: Fifty-eight participants (18.5 ± 3.6 years old) with anterior open bite (n = 29) and normal overbite (n = 29) who presented to Marmara University, Department of Orthodontics for treatment were included in the study. Initial cephalometric radiographs were used for the diagnosis of malocclusion. The case group was divided into three subgroups according to degree of open bite. For DNA isolation, oral epithelial cells were collected with buccal swabs (Van Allen Way, Carlsbad, USA), and the real-time PCR method was used for the genotyping of all polymorphisms. The results were statistically analysed, and the threshold for statistical significance was set at p < 0.05.
Results: The frequencies of RR, RX and XX genotypes of ACTN3 rs1815739 polymorphism were found as 6 (20.7%), 14 (48.3%) and 9 (31.0%) in the control group and 8 (8%), 9 (31.0%) and 12 (41.4%) in the case group, respectively. There was no statistically significant difference between the groups in terms of the presence of the examined polymorphism (p > 0.05). However, the intra-group evaluation of case group revealed a significant difference in the prevalence of XX genotype (83.3%) for the subgroup with an open bite of -5 mm or above.
Conclusion: Although no significant difference was observed between the case and control groups, a possible association was identified between ACTN3 rs1815739 polymorphism and an increased severity of open bite malocclusion.
期刊介绍:
Orthodontics & Craniofacial Research - Genes, Growth and Development is published to serve its readers as an international forum for the presentation and critical discussion of issues pertinent to the advancement of the specialty of orthodontics and the evidence-based knowledge of craniofacial growth and development. This forum is based on scientifically supported information, but also includes minority and conflicting opinions.
The objective of the journal is to facilitate effective communication between the research community and practicing clinicians. Original papers of high scientific quality that report the findings of clinical trials, clinical epidemiology, and novel therapeutic or diagnostic approaches are appropriate submissions. Similarly, we welcome papers in genetics, developmental biology, syndromology, surgery, speech and hearing, and other biomedical disciplines related to clinical orthodontics and normal and abnormal craniofacial growth and development. In addition to original and basic research, the journal publishes concise reviews, case reports of substantial value, invited essays, letters, and announcements.
The journal is published quarterly. The review of submitted papers will be coordinated by the editor and members of the editorial board. It is policy to review manuscripts within 3 to 4 weeks of receipt and to publish within 3 to 6 months of acceptance.