Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns

Publication date: Available online 30 September 2018

Source: Archives of Oral Biology

Author(s): Arthur Cunha, Paulo Nelson-Filho, Guido Artemio Marañón-Vásquez, Alice Gomes de Carvalho Ramos, Beatriz Dantas, Aline Monise Sebastiani, Felipe Silvério, Marjorie Ayumi Omori, Amanda Silva Rodrigues, Ellen Cardoso Teixeira, Simone Carvalho Levy, Marcelo Calvo de Araújo, Mírian Aiko Nakane Matsumoto, Fábio Lourenço Romano, Lívia Azeredo A. Antunes, Delson João da Costa, Rafaela Scariot, Leonardo Santos Antunes, Alexandre R. Vieira, Erika C. Küchler

ABSTRACT

Objective

This study aimed to evaluate the association of genetic variants inACTN3 and MYO1H with craniofacial skeletal patterns in Brazilians.

Design

This cross-sectional study enrolled orthodontic and orthognathic patients selected from 4 regions of Brazil. Lateral cephalograms were used and digital cephalometric tracings and analyzes were performed for craniofacial phenotype determination. Participants were classified according to the skeletal malocclusion in Class I, II or III; and according to the facial type in Mesofacial, Dolichofacial or Brachyfacial. Genomic DNA was extracted from saliva samples containing exfoliated buccal epithelial cells and analyzed for genetic variants inACTN3 (rs678397 and rs1815739) and MYO1H (rs10850110) by real-time PCR. Chi-square or Fisher's exact tests were used for statistical analysis (α = 5%).

Results

A total of 646 patients were included in the present study. There was statistically significant association of the genotypes and/or alleles distributions with the skeletal malocclusion (sagittal skeletal pattern) and facial type (vertical pattern) for the variants assessed inACTN3 (P <  0.05). For the genetic variant evaluated in MYO1H, there was statistically significant difference between the genotypes frequencies for skeletal Class I and Class II (P <  0.05). The reported associations were different depending on the region evaluated.

Conclusion

ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns in Brazilian populations.

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