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Identificação de polimorfismos genéticos associados a distúrbios temporomandibulares
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Introdução: Os Distúrbios Temporomandibulares (DTM) constituem um conjunto de condições que afetam a articulação temporomandibular e os <br/>músculos mastigatórios, manifestando-se predominantemente por dor orofacial e limitação funcional. Apresentam uma etiologia multifatorial, resultante da interação entre fatores biológicos, mecânicos, psicológicos e ambientais, sendo a sua prevalência superior no sexo feminino. Nos últimos anos, a investigação tem evidenciado o papel dos fatores genéticos na suscetibilidade individual aos DTM, destacando-se os polimorfismos genéticos como potenciais marcadores de risco, com relevância para o diagnóstico precoce e para abordagens terapêuticas personalizadas. Objetivo: Identificar polimorfismos genéticos do gene COMT (Catecol-O metiltransferase) associados a DTM numa população adulta, analisando a sua possível relação com a presença e a severidade da disfunção. Materiais e métodos: Realizou-se um estudo transversal observacional com setenta e um pacientes adultos da Clínica Dentária Universitária. A presença e a severidade dos DTM foram avaliadas através do Questionário Anamnésico de Fonseca. Procedeu-se à recolha de saliva por método não invasivo, com amplificação por reação em cadeia da polimerase e sequenciação para identificação de polimorfismos de nucleótido único no gene COMT. Os dados foram sujeitos a análise descritiva e inferencial, recorrendo aos testes do qui-quadrado e exato de Fisher, ao teste de Kruskal-Wallis e à avaliação do equilíbrio de Hardy-Weinberg (p < 0,05). Resultados: Dos setenta e um participantes, vinte e três não apresentaram disfunção, vinte e cinco apresentaram disfunção leve, dezoito moderada e cinco severa. Observou-se elevada frequência de hábitos parafuncionais e de tensão emocional autorreferida. A amostra revelou uma distribuição equilibrada entre sexos, concentrando-se os casos severos no sexo feminino, embora não se tenha verificado associação estatisticamente significativa entre a severidade de DTM e o género, a idade ou o índice de massa corporal (p > 0,05). Foram identificados vários polimorfismos no gene COMT, sendo os mais frequentes o rs4680 e o rs4818, ambos em equilíbrio de Hardy-Weinberg. Não se observou associação estatisticamente significativa entre os genótipos e a severidade de DTM, contudo, os genótipos homozigóticos para a variante (rs4680 AA e rs4818 GG) ocorreram exclusivamente em pacientes com disfunção. Conclusão: Não se identificaram associações estatisticamente significativas entre as variáveis analisadas, clínicas, sociodemográficas ou genéticas, e a severidade de DTM, o que se relaciona com a reduzida dimensão da amostra. Será necessário um estudo mais alargado, com maior número de pacientes, para suportar a associação dos polimorfismos encontrados à severidade dos DTM.
Introduction: Temporomandibular Disorders (TMD) comprise a set of conditions affecting the temporomandibular joint and the masticatory muscles, manifesting predominantly as orofacial pain and functional limitation. They have a multifactorial etiology, resulting from the interaction between biological, mechanical, psychological, and environmental factors, with a higher prevalence in females. In recent years, research has highlighted the role of genetic factors in individual susceptibility to TMD, with genetic polymorphisms standing out as potential risk markers, relevant to early diagnosis and to personalized therapeutic approaches. Objective: To identify genetic polymorphisms of the COMT gene (Catechol-O methyltransferase) associated with TMD in an adult population, analyzing their possible relationship with the presence and severity of the disorder. Materials and methods: A cross-sectional observational study was conducted with seventy-one adult patients from the University Dental Clinic. The presence and severity of TMD were assessed using the Fonseca Anamnestic Questionnaire. Saliva was collected by a non-invasive method, with amplification by polymerase chain reaction and sequencing for the identification of single nucleotide polymorphisms in the COMT gene. The data were subjected to descriptive and inferential analysis, using the chi-square and Fisher's exact tests, the Kruskal-Wallis test, and the assessment of Hardy-Weinberg equilibrium (p < 0.05). Results: Of the seventy-one participants, twenty-three presented no disorder, twenty-five presented mild disorder, eighteen moderate, and five severe. A high frequency of parafunctional habits and self-reported emotional tension was <br/>observed. The sample revealed a balanced distribution between sexes, with severe cases concentrated in females, although no statistically significant association was found between TMD severity and gender, age, or body mass index (p > 0.05). Several polymorphisms were identified in the COMT gene, the most frequent being rs4680 and rs4818, both in Hardy-Weinberg equilibrium. No statistically significant association was observed between genotypes and TMD severity; however, the homozygous genotypes for the variant (rs4680 AA and rs4818 GG) occurred exclusively in patients with the disorder. Conclusion: No statistically significant associations were identified between the variables analyzed, clinical, sociodemographic, or genetic, and TMD severity, which is related to the small sample size. A larger study, with a greater number of patients, will be necessary to support the association of the polymorphisms found with TMD severity.
Introduction: Temporomandibular Disorders (TMD) comprise a set of conditions affecting the temporomandibular joint and the masticatory muscles, manifesting predominantly as orofacial pain and functional limitation. They have a multifactorial etiology, resulting from the interaction between biological, mechanical, psychological, and environmental factors, with a higher prevalence in females. In recent years, research has highlighted the role of genetic factors in individual susceptibility to TMD, with genetic polymorphisms standing out as potential risk markers, relevant to early diagnosis and to personalized therapeutic approaches. Objective: To identify genetic polymorphisms of the COMT gene (Catechol-O methyltransferase) associated with TMD in an adult population, analyzing their possible relationship with the presence and severity of the disorder. Materials and methods: A cross-sectional observational study was conducted with seventy-one adult patients from the University Dental Clinic. The presence and severity of TMD were assessed using the Fonseca Anamnestic Questionnaire. Saliva was collected by a non-invasive method, with amplification by polymerase chain reaction and sequencing for the identification of single nucleotide polymorphisms in the COMT gene. The data were subjected to descriptive and inferential analysis, using the chi-square and Fisher's exact tests, the Kruskal-Wallis test, and the assessment of Hardy-Weinberg equilibrium (p < 0.05). Results: Of the seventy-one participants, twenty-three presented no disorder, twenty-five presented mild disorder, eighteen moderate, and five severe. A high frequency of parafunctional habits and self-reported emotional tension was <br/>observed. The sample revealed a balanced distribution between sexes, with severe cases concentrated in females, although no statistically significant association was found between TMD severity and gender, age, or body mass index (p > 0.05). Several polymorphisms were identified in the COMT gene, the most frequent being rs4680 and rs4818, both in Hardy-Weinberg equilibrium. No statistically significant association was observed between genotypes and TMD severity; however, the homozygous genotypes for the variant (rs4680 AA and rs4818 GG) occurred exclusively in patients with the disorder. Conclusion: No statistically significant associations were identified between the variables analyzed, clinical, sociodemographic, or genetic, and TMD severity, which is related to the small sample size. A larger study, with a greater number of patients, will be necessary to support the association of the polymorphisms found with TMD severity.
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Distúrbios temporomandibulares Articulação temporomandibular Polimorfismos genéticos Dor orofacial Medicina dentária de precisão Temporomandibular disorders Temporomandibular joint Genetic polymorphisms Orofacial pain Precision dentistry
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