COL2A1 Gene is Associated with Dentofacial Deformities Phenotypes

Abstract

The etiology of the dentofacial deformities are still uncertain, with genetic, epigenetic, and environmental factors involved. COL2A1 gene is involved in the expression of type II collagen and is candidate gene for dentofacial deformities phenotypes. The aim of the study is to evaluate the association between genetic polymorphisms in COL2A1 and dentofacial deformities phenotypes. A total of 144 patients with dentofacial deformities, which were submitted to orthognathic surgery, were included. Pre‐surgery lateral cephalometric radiographs of those patients were traced using the program Dolphin. The dentofacial deformity phenotypes was classified according to ANB angle (Class I between 0 and 4°; Class II > 4°; Class III < 0°). SNA (horizontal position of the maxilla relative to the cranial base) and SNB (horizontal position of the mandible relative to the cranial base) angles were also traced. To genetic evaluation, cells from oral mucosa were collected in order to DNA extraction. The polymorphisms rs2276454 and rs1793953 were genotyped using real‐time PCR. Data obtained were submitted to a statistical analysis. Qui‐square and linear regression analysis were used. The established alpha was p < 0.05. There was an association dentofacial deformity phenotypes and the recessive model of COL2A1 (rs1793953) gene (p = 0.028). In addition, in linear regression model, individuals with TT genotype in rs2276454 presented lower SNA values compared to the CC genotype (p = 0.049; b coefficient = 0.069). Also, individuals with TT (p = 0.040; b coefficient = 0.51) and CT (p = 0.029; b coefficient = 0.03) genotype presented lower SNB values when compared to CC genotypes. Genetic polymorphisms in collagenase are associated with maxilla and mandible phenotypes in a brazilian population with dentofacial deformities.Support or Funding InformationThere is no Support or Funding InformationThis abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.