Turkish Journal of Orthodontics
Original Article

The Association of ACTN3 Rs1815739 Polymorphism with Various Malocclusion Phenotype


Department of Orthodontics, Marmara University, Faculty of Dentistry, İstanbul, Turkey


Department of Medical Biology and Genetics, Marmara University, Faculty of Dentistry, İstanbul, Turkey

Turk J Orthod 2022; 35: 127-132
DOI: 10.5152/TurkJOrthod.2022.21171
Read: 471 Downloads: 122 Published: 01 June 2022

Objective: A functional polymorphism on the 16th exon of the alpha-actinin-3 gene has an effect on the protein structure and cellular signaling and therefore on muscle contraction. In this study, we aimed to analyze the alpha-actinin-3 rs1815739 polymorphism in 3-dimensional malocclusions and different craniofacial skeletal patterns.

Methods: Forty-nine volunteering subjects enrolled for the study. Genotyping of alpha-actinin-3 rs1815739 polymorphism was per- formed using real-time polymerase chain reaction. Pre-orthodontic cephalometric radiographs were traced using NemoTech ceph- alometric tracing software. IBM SPSS Statistics for Windows was utilized to carry out statistical analysis. P < .05 was considered to be statistically significant.

Results: The respective numbers and the percentages of alpha-actinin-3 rs1815739 polymorphisms for RR, RX, and XX genotypes were 39 (79.6%), 4 (8.2%), and 6 (12.2%), respectively. Twenty-one patients had low angle vertical patterns and 17 patients had Class I and the same number of the patients had Class III facial patterns. But none of these had statistically significant difference in terms of alpha-actinin-3 rs1815739 polymorphism and in vertical or sagittal facial patterns, and mandibular incisor inclination. When we examined the maxillary anteroposterior position, we found a significant difference between rs1815739 polymorphisms (P < .05). Also, we detected a significant difference between rs1815739 polymorphism and maxillary incisor inclination (P < .05).

Conclusion: Maxillary incisor inclination and maxillary anteroposterior position are associated with alpha-actinin-3 rs1815739 poly- morphism in a Turkish cohort.

Cite this article as: Alalim HNI, Eken BF, Ulucan K, Özdemir F. The association of ACTN3 Rs1815739 polymorphism with various malocclusion phenotype. Turk J Orthod. 2022;35(2):127-132.

EISSN 2148-9505