# Involvement of the gene encoding the collagen type II alpha 1 chain in mandibular mobility

## TL;DR

This study found that specific genetic variations in the COL2A1 gene are linked to differences in jaw movement among adolescents.

## Contribution

The study is the first to investigate the role of COL2A1 gene SNPs in mandibular mobility.

## Key findings

- SNP rs1793953 in COL2A1 is associated with differences in unassisted and assisted jaw opening and contralateral movements.
- SNP rs2276454 in COL2A1 is linked to increased protrusive jaw movement in individuals with the TT genotype.
- Gender and age were not associated with mandibular movement variations in the studied population.

## Abstract

There are no studies investigating the role of COL2A1 genes for mandibular mobility. The aim of this study was investigate the association between mandible mobility with single nucleotide polymorphisms (SNPs) in gene encoding collagen type II alpha 1 chain (COL2A1).

Adolescents age from 10 to 14 years old without restrictions in mandibular movement were evaluated. The mandibular mobility was recorded using rule. Genomic DNA was obtained from saliva and the SNPs in COL2A1 gene (rs1793953 and rs2276454) were genotyped by real time polymerase chain reactions. One-way ANOVA with Tukey’s post-test was used to compare the mean values of the mandibular mobility among genotypes in the co-dominant model. A linear regression analysis was also performed.

99 adolescents were included (53 boys and 46 girls). Gender and age were not associated with mandibular movements. For the rs1793953, unassisted opening, assisted opening and contralateral movements were statistically different among genotypes. The rs2276454 was associated with larger protrusive movements, in patients carrying TT genotype presented higher protrusion mean values than CT and TT individuals (p = 0.0046).

Our findings suggest that genes may play an essential role for the normal variation in mandibular movement and SNPs rs1793953 and rs2276454 in COL2A1 may explain mandibular mobility variations.