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Abstract

Background: The protein Alpha-actinin-3 (ACTN3) is an actin-binding protein that influences muscle performance and the proportion of muscle fiber types in human skeletal muscle, including masticatory muscle. Previous studies have incorporated muscle fiber type into craniofacial development that may lead to malocclusion.

Aim: To determine the correlation between polymorphisms of ACTN3 R557X and Q523R gene on skeletal patterns in Indonesian Subpopulations.

Materials and methods: Subjects are patients with class I, II, and III skeletal malocclusion at the Faculty of Dentistry Universitas Indonesia with a total of 171 patients involved. Research samples consisted of 10 hair follicles and lateral cephalometric photographs of the patients. DNA sequence amplification was carried out using Polymerase Chain Reaction (PCR), proceeded with Restriction Fragment Length Polymorphism (RFLP). Skeletal patterns were determined based on radiographic analysis of the initial cephalometry using the ANB, Facial axis, and Gonion angle.

Result: The distribution of genotypes and alleles from showed that the highest frequency was found in the heterozygous genotype group compared to the other homozygous genotype in all groups. In general, the genotype difference between R557X and Q523R only occurred in 5 samples or 3% of the total number of research subjects.

Conclusion: There is no correlation between the ACTN3 R557X and Q523R gene polymorphisms with skeletal malocclusion class I, II, and III, vertical facial growth, and growth direction of the lower third of the face. However, it is found that ACTN3 R557X and Q523R in the Indonesian subpopulation experience linkage disequilibrium.

Keywords: Polymorphism, ACTN3, SNPs, Muscle, Skeletal Pattern

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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©2025Ninis Y. Wulandari, Fadli Jazaldi, Nurtami Soedarsono, Maria Purbiati

DOI

10.15562/jdmfs.v10i3.1739

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