Association between single nucleotides polymorphisms in the DR2D, ANKK1, COMT, and 5-HTT genes with temporomandibular disorder

Otavio Augusto Pozza; Fernanda Mara de Paiva Bertoli; Franciele Topolski; Paula Porto Spada; Marilisa Carneiro Leão Gabardo; Juliana Feltrin de Souza; Erika Calvano Küchler; João Armando Brancher

doi:10.1590/

Authors

Otavio Augusto Pozza Universidade Positivo. Faculdade de Ciências da Saúde. Programa de Pós-graduação em Odontologia https://orcid.org/0000-0002-3588-2520
Fernanda Mara de Paiva Bertoli Universidade Positivo. Faculdade de Ciências da Saúde. Programa de Pós-graduação em Odontologia
Franciele Topolski Universidade Positivo. Faculdade de Ciências da Saúde. Programa de Pós-graduação em Odontologia https://orcid.org/0000-0003-4557-553X
Paula Porto Spada Universidade Positivo. Faculdade de Ciências da Saúde. Programa de Pós-graduação em Odontologia https://orcid.org/0000-0002-3143-5467
Marilisa Carneiro Leão Gabardo Universidade Positivo. Faculdade de Ciências da Saúde. Programa de Pós-graduação em Odontologia https://orcid.org/0000-0001-6832-8158
Juliana Feltrin de Souza Universidade Federal do Paraná. Departamento de Estomatologia https://orcid.org/0000-0001-9969-3721
Erika Calvano Küchler University Hospital Bonn. Department of Orthodontics. Medical Faculty https://orcid.org/0000-0001-5351-2526
João Armando Brancher Universidade Positivo, Faculdade de Ciências da Saúde. Programa de Pós-graduação em Odontologia. https://orcid.org/0000-0002-8914-702X

DOI:

https://doi.org/10.1590/

Keywords:

Genetic polymorphisms, Orofacial pain, Temporomandibular joint disorders, Serotonin, Dopamine

Abstract

Background Temporomandibular disorders (TMDs) comprise a heterogeneous group of musculoskeletal conditions affecting the temporomandibular joint, masticatory muscles, and associated structures. Growing evidence highlights the role of genetic predisposition as a significant contributor to TMD. Aim This study aimed to investigate genetic aspects involved in TMDs etiology. Methodology A cross-sectional study was conducted with 249 adolescents, of whom 149 were affected by TMD. Genomic DNA was extracted from buccal cells, and single nucleotide polymorphisms (SNPs) in DRD2 (rs6275 and rs6276), ANKK1 (rs1800497), COMT (rs6269 and rs4818), and 5-HTT genes (rs3813034 and 1042173) were analyzed. Allelic and genotypic distribution, haplotype, and diplotype analysis were performed using PLINK software version 1.06. Multifactor dimensionality reduction (MDR) was applied to identify SNP-SNP interactions and generate an interaction graph. Results In total, three possible single-locus allele combinations were obtained for haplotype and diplotype analyses (rs6275|rs6276 in DRD2, rs6269|rs4818 in COMT and rs3813034|rs1042173 in 5-HTT), but no associations with TMD were observed (p>0.05). However, MDR analysis for gene-gene interactions revealed a synergistic relationship between rs6275 (DRD2), rs6269 (COMT), and rs1042173 (5-HTT) that predisposes to TMD (p=0.050). Conclusion MDR analysis suggests a possible synergistic interaction among SNPs in the DRD2, COMT, and 5-HTT genes that may contribute to TMD susceptibility in adolescents.

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Association between single nucleotides polymorphisms in the DR2D, ANKK1, COMT, and 5-HTT genes with temporomandibular disorder

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