{"title":"Role of ACTN3 Gene rs1815739 Polymorphism and Its Effects on Mandibular Morphogenesis.","authors":"Ashwin Mathew George, Jayaseelan Vijayashree Priyadharsini, Sumathi Felicita, Shantha Sundari, Aravind Kumar Subramanian","doi":"10.1111/ocr.12919","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>Genetic polymorphism of the α-actinin-3 (ACTN3) gene has an influence on the facial skeletal profile, with the activity of the α-actinins protein influencing the contractile properties of the masseteric muscles. This study examines the association between the ACTN3 rs1815739 polymorphism through a Stop Codon (changing 577RR to 577XX) resulting in variations in mandibular morphogenesis.</p><p><strong>Materials and methods: </strong>Two hundred and fifty subjects were categorised into three groups. The control group (Group 1) comprised 100 patients with skeletal Class I malocclusion. The experimental group (Group 2) had 150 subjects with skeletal Class II malocclusions and a retrognathic mandible, divided into two groups of 75 subjects each based on the ramal heights (short ramal height-Group 2a) and (long ramal height-Group 2b). Saliva samples of the subjects were analysed to identify the genotype of the rs1815739. Tissue samples were taken to quantify the mRNA expression in the different alleles studied.</p><p><strong>Results: </strong>Polymorphism of the ACTN3 gene with risk homozygous TT genotype was linked only to subjects with short ramal height. The highly variable polymorphic site exhibited a substitution of the ancestral allele cytosine (C) with thymine (T) inhibiting protein synthesis. The mRNA expression was also found to be reduced (p < 0.05) in the short ramal height group.</p><p><strong>Conclusion: </strong>ACTN3 577XX polymorphism is more common among individuals with skeletal Class II malocclusion and short ramal height in the Dravidian population. It results in decreased protein expression in the masseteric muscle, which contributes to variations in sagittal and vertical facial dimensions.</p>","PeriodicalId":19652,"journal":{"name":"Orthodontics & Craniofacial Research","volume":" ","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2025-03-29","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.12919","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
Objectives: Genetic polymorphism of the α-actinin-3 (ACTN3) gene has an influence on the facial skeletal profile, with the activity of the α-actinins protein influencing the contractile properties of the masseteric muscles. This study examines the association between the ACTN3 rs1815739 polymorphism through a Stop Codon (changing 577RR to 577XX) resulting in variations in mandibular morphogenesis.
Materials and methods: Two hundred and fifty subjects were categorised into three groups. The control group (Group 1) comprised 100 patients with skeletal Class I malocclusion. The experimental group (Group 2) had 150 subjects with skeletal Class II malocclusions and a retrognathic mandible, divided into two groups of 75 subjects each based on the ramal heights (short ramal height-Group 2a) and (long ramal height-Group 2b). Saliva samples of the subjects were analysed to identify the genotype of the rs1815739. Tissue samples were taken to quantify the mRNA expression in the different alleles studied.
Results: Polymorphism of the ACTN3 gene with risk homozygous TT genotype was linked only to subjects with short ramal height. The highly variable polymorphic site exhibited a substitution of the ancestral allele cytosine (C) with thymine (T) inhibiting protein synthesis. The mRNA expression was also found to be reduced (p < 0.05) in the short ramal height group.
Conclusion: ACTN3 577XX polymorphism is more common among individuals with skeletal Class II malocclusion and short ramal height in the Dravidian population. It results in decreased protein expression in the masseteric muscle, which contributes to variations in sagittal and vertical facial dimensions.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
