ACTN3 RS1815739 polimorfizminin maloklüzyon fenotipleri ile ilişkisi

Objective: Alpha actin-3 is the protein that is present in the structure of the skeleton and regulator in muscle structure. Alpha-Actin is encoded by the ACTN3 gene region located on chromosome 11. Malocclusion is a complex trait in both its phenotypic expression and its genetic etiology, and several genes are associated with the phenotype. We aimed to analyze the ACTN3 rs1815739 polymorphism in patients with malocclusion. Material and methods: 49 patients participated in our study. Signed informative forms were obtained from the volunteers. DNA isolation were done from buccal epithelial cell . Genotyping of all polymorphisms was determined by real-time PCR (RT-PCR) method. Fisher's exact test was used to test for the statistical significance of the associations between the genotypes and the phenotypes. Results: The numbers and percentages of the RR, RX, XX genotypes of ACTN3 (rs1815739) polymorphism were found to be 39 (%79.6), 4(%8.2), 6(%12.2) respectively. RR genotypes was associated with higher frequency of patients with normal angles, increased upper and decreased lower incisor inclination phenotypes but with lower frequency of Class I phenotypes. RX genotypes were associated with higher frequency of high angles, increased upper incisor inclination, decreased lower incisor inclination phenotypes and Class I phenotypes. XX genotypes were associated with higher frequency of Class I phenotypes and decreased lower incisor inclination phenotypes. None of the above association were statistically significant. Conclusion: This study shows the possible relationship between upper incisor and lower incisors inclination and skeletal sagital relationship phenotypes and the RR, RX and XX genotypes