ArticleAmerican journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics2014
ACTN3 R577X genotypes associate with Class II and deepbite malocclusions.
Article in American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Genes and Pathways Associated with Skeletal Sagittal Malocclusions: A Systematic Review.International journal of molecular sciences · 2021Pooled it
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- Comprehensive Deciphering the Complexity of the Deep Bite: Insight from Animal Model to Human Subjects.Journal of personalized medicine · 2023Article
- Association between Taql polymorphism of vitamin D receptor gene and vertical growth of the mandible: A cross-sectional study.Korean journal of orthodontics · 2023Article
- Effects of Malocclusion on Maximal Aerobic Capacity and Athletic Performance in Young Sub-Elite Athletes.Sports (Basel, Switzerland) · 2023Article
- Influence of genotype and perioral musculature on maxillary and mandibular development.The Angle orthodontist · 2022Article
- The Association of ACTN3 Rs1815739 Polymorphism with Various Malocclusion Phenotype.Turkish journal of orthodontics · 2022Article
- Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients.Children (Basel, Switzerland) · 2022Article
- FGF10 and FGF13 genetic variation and tooth-size discrepancies.The Angle orthodontist · 2021Article
- Masticatory Functional Load Increases the mRNA Expression Levels of ACTN2 and ACTN3 and the Protein Expression of α-Actinin-2 in Rat Masseter Muscle.Turkish journal of pharmaceutical sciences · 2021Article
- Article
- Orthodontics and Genetics.Dental press journal of orthodontics · 2019Article
- Heredity, Genetics and Orthodontics - How Much Has This Research Really Helped?Seminars in orthodontics · 2017Article
- ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders.American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics · 2017Article
- Expressional Analysis of MSX1 (Human) Revealed its Role in Sagittal Jaw Relationship.Journal of clinical and diagnostic research : JCDR · 2017Article
- Article
- ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical treatment response in dentofacial deformities.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery · 2016Article
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8 authors at 4 institutions in 2 countries.
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Abstract
introductionα-Actinins are myofibril anchor proteins that influence the contractile properties of skeletal muscles. ACTN2 is expressed in slow type I and fast type II fibers, whereas ACTN3 is expressed only in fast fibers. ACTN3 homozygosity for the 577X stop codon (ie, changing 577RR to 577XX, the R577X polymorphism) results in the absence of α-actinin-3 in about 18% of Europeans, diminishes fast contractile ability, enhances endurance performance, and reduces bone mass or bone mineral density. We have examined ACTN3 expression and genetic variation in the masseter muscle of orthognathic surgery patients to determine the genotype associations with malocclusion.
methodsClinical information, masseter muscle biopsies, and saliva samples were obtained from 60 subjects. Genotyping for ACTN3 single nucleotide polymorphisms, real-time polymerase chain reaction quantitation of muscle gene message, and muscle morphometric fiber type properties were compared to determine statistical differences between genotype and phenotype.
resultsMuscle mRNA expression level was significantly different for ACTN3 single nucleotide polymorphism genotypes (P <0.01). The frequency of ACTN3 genotypes was significantly different for the sagittal and vertical classifications of malocclusion, with the clearest association being elevated 577XX genotype in skeletal Class II malocclusion (P = 0.003). This genotype also resulted in significantly smaller diameters of fast type II fibers in masseter muscles (P = 0.002).
conclusionACTN3 577XX is overrepresented in subjects with skeletal Class II malocclusion, suggesting a biologic influence during bone growth. ACTN3 577XX is underrepresented in subjects with deepbite malocclusion, suggesting that muscle differences contribute to variations in vertical facial dimensions.
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