Objectives: Temporomandibular disorder (TMD) is considered a functional disorder with multifactorial aspects. The goal of this study was to investigate if genetic polymorphisms in the COL2A1 gene could be associated with TMD in adolescents. Study design: The case group (TMD-affected) included individuals diagnosed with any of the following TMD subgroups according to the RDC/TMD criteria: myofascial pain, disc displacements and arthralgia. Genomic DNA for molecular analysis was extracted from buccal cells and genetic polymorphisms in COL2A1 were genotyped by real time polymerase chain reactions using the TaqMan assay. Data were analyzed using the Epi Info 3.5.7 and Stata software. Results: 249 subjects were included in this study (148 subjects “affected” by TMD). There were no significant differences between the affected and unaffected individual (p>0.05), for TMD, arthralgia and myofascial pain however, rs2276454 was borderline in the genotype distribution (p=0.07) and was associated with disc displacement (p=0.03) in the allelic distribution. Recessive model showed significant differences between groups for with disc displacement (p=0.02). Conclusions: Genetic polymorphisms in COL2A1 are not associated with myofascial pain, arthralgia or TMD in adolescents but this study provides evidence that rs2276454 is involved in the disc displacement of the temporomandibular joint.

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