Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Repositório do Centro Universitário Braz Cubas |
Texto Completo: | https://repositorio.cruzeirodosul.edu.br/handle/123456789/4072 |
Resumo: | Introduction: Bruxism is characterized by the activity of the masticatory muscles that can happen during sleep (Sleep Bruxism, SB) and / or during wakefulness (Awake Bruxism, AB). Its etiology is multifactorial, with the participation of several physiological and psychosocial factors, in addition to external factors, but studies indicate that the genetic background of the individual seems to have an important role in the evolution of this condition. Regarding the genetic factor, several genes have been associated with Bruxism and other genes, although they have not been investigated, deserve attention. One such gene is the gene encoding the Melatonin Receptor called melatonin receptor type 1A (MTNR1A). Objective: investigate the association between the MTNR1A gene and SB in an adult population. Materials and Method: A total of 48 adults of both sexes were submitted to clinical examination by the RDC/TMD (Research Diagnostic Criteria for Temporomandibular Disorders) following the recommendations proposed by the American Academy of Sleep Medicine (AASM). Questionnaire for assessing Bruxism and Polysomnography exam were performed in all individuals. DNA samples were collected and three SNPs in the MTNR1A gene (rs13140012, rs6553010 and rs6847693) were selected and genotyped using the real-time PCR technique. Data were analyzed using the Epi Info 3.5.7 and Stata programs (StataCorp, College Station, TX, USA, version 11) considering the allelic, genotypic, dominant or recessive models. PLINK 1.07 (https://zzz.bwh.harvard.edu/plink/index.shtml) program was used for haplotype analysis. The Hardy-Weinberg balance was assessed using the chi-square test for each polymorphism included in this study. The level of statistical significance was set at 95% (p <0.05). Results: 48 individuals (27 men and 21 women, aged between 21 and 80 years) were included in the study. 17 individuals diagnosed with SB (11 men and 6 women) were included in the affected group. Another 31 individuals (16 men and 15 women) were diagnosed no bruxism and were included in the unaffected group. Regarding genetic polymorphisms, all were in Hardy-Weinberg equilibrium, and the chi-square for rs6553010, rs13140012 and rs6847693 were 2.2, 0.67 and 2.12, respectively. No associations were found between SB and the SNPs studied both in the genotypic model and in the allelic, dominant and recessive models (p> 0.05). Haplotype genetic analysis also did not reveal any association between SNPs and SB (p> 0.05). Conclusion: Since the tests used for the diagnosis of SB are gold standard clinical and laboratory tests, the obtained results are suggestive that there is no involvement of the MTNR1A gene in the etiology of SB in the studied population. |
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Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sonoOdontologiaBruxismoBruxismo do sonoGenéticaPolimorfismo genéticoCNPQ::CIENCIAS DA SAUDE::ODONTOLOGIAIntroduction: Bruxism is characterized by the activity of the masticatory muscles that can happen during sleep (Sleep Bruxism, SB) and / or during wakefulness (Awake Bruxism, AB). Its etiology is multifactorial, with the participation of several physiological and psychosocial factors, in addition to external factors, but studies indicate that the genetic background of the individual seems to have an important role in the evolution of this condition. Regarding the genetic factor, several genes have been associated with Bruxism and other genes, although they have not been investigated, deserve attention. One such gene is the gene encoding the Melatonin Receptor called melatonin receptor type 1A (MTNR1A). Objective: investigate the association between the MTNR1A gene and SB in an adult population. Materials and Method: A total of 48 adults of both sexes were submitted to clinical examination by the RDC/TMD (Research Diagnostic Criteria for Temporomandibular Disorders) following the recommendations proposed by the American Academy of Sleep Medicine (AASM). Questionnaire for assessing Bruxism and Polysomnography exam were performed in all individuals. DNA samples were collected and three SNPs in the MTNR1A gene (rs13140012, rs6553010 and rs6847693) were selected and genotyped using the real-time PCR technique. Data were analyzed using the Epi Info 3.5.7 and Stata programs (StataCorp, College Station, TX, USA, version 11) considering the allelic, genotypic, dominant or recessive models. PLINK 1.07 (https://zzz.bwh.harvard.edu/plink/index.shtml) program was used for haplotype analysis. The Hardy-Weinberg balance was assessed using the chi-square test for each polymorphism included in this study. The level of statistical significance was set at 95% (p <0.05). Results: 48 individuals (27 men and 21 women, aged between 21 and 80 years) were included in the study. 17 individuals diagnosed with SB (11 men and 6 women) were included in the affected group. Another 31 individuals (16 men and 15 women) were diagnosed no bruxism and were included in the unaffected group. Regarding genetic polymorphisms, all were in Hardy-Weinberg equilibrium, and the chi-square for rs6553010, rs13140012 and rs6847693 were 2.2, 0.67 and 2.12, respectively. No associations were found between SB and the SNPs studied both in the genotypic model and in the allelic, dominant and recessive models (p> 0.05). Haplotype genetic analysis also did not reveal any association between SNPs and SB (p> 0.05). Conclusion: Since the tests used for the diagnosis of SB are gold standard clinical and laboratory tests, the obtained results are suggestive that there is no involvement of the MTNR1A gene in the etiology of SB in the studied population.Introdução: Bruxismo é caracterizado pela atividade dos músculos da mastigação que pode acontecer durante o sono (Bruxismo do Sono, BS) e/ou durante a vigília (Bruxismo da Vigília, BV). Sua etiologia é multifatorial, tendo a participação de fatores fisiológicos e psicossociais, além de fatores externos, mas estudos apontam que o background genético do indivíduo parece ter um papel importante para a evolução desta condição. No que diz respeito ao fator genético, vários genes vem sendo associados ao Bruxismo e outros genes, apesar de não terem sido investigados, merecem atenção. Um desses genes é o gene que codifica o Receptor de Melatonina denominado Melatonin receptor type 1A (MTNR1A). Objetivo: investigar a associação entre o gene MTNR1A com BS em uma população adulta. Materiais e Método: Foram incluídos neste estudo 48 indivíduos que foram examinados seguindo as recomendações propostas pela American Academy of Sleep Medicine (AASM) e pelo RDC/TMD (Research Diagnostic Criteria for Temporomandibular Disorders). Todos responderam ao questionário para avaliação de Bruxismo e realizaram o exame de Polissonografia. Amostras de DNA foram coletadas e três polimorfismos de nucleotídeos únicos (SNPs) no gene MTNR1A (rs13140012, rs6553010 e rs6847693) foram selecionados e genotipados por meio da técnica de PCR em tempo real. Os dados foram analisados nos programas Epi Info 3.5.7 e Stata (StataCorp, College Station, TX, EUA, versão 11) considerando os modelos alélico, genotípico, dominante ou recessivo. O programa PLINK 1.07 (https://zzz.bwh.harvard.edu/plink/index.shtml) foi usado para análise de haplótipos. O equilíbrio de Hardy-Weinberg foi avaliado por meio do teste do qui-quadrado para cada polimorfismo incluído neste estudo. O nível de significância estatística foi estabelecido em 95% (p <0,05). Resultados: 48 indivíduos (27 homens e 21 mulheres, com idade entre 21 e 80 anos) foram incluídos no estudo. 17 indivíduos diagnosticados com BS (11 homens e 6 mulheres) foram incluídos no grupo afetado. Outros 31 indivíduos (16 homens e 15 mulheres) receberam diagnóstico de não bruxistas e foram incluídos no grupo não afetado. Em relação aos polimorfismos genéticos, todos estavam em equilíbrio de Hardy-Weinberg, e o qui-quadrado para rs6553010, rs13140012 e rs6847693 foram 2,2, 0,67 e 2,12, respectivamente. Não foram encontradas associações entre BS e os SNPs estudados tanto no modelo genotípico quanto nos modelos alélico, dominante e recessivo (p> 0,05). A análise genética por Haplótipo também não revelou nenhuma associação entre os SNPs e BS (p> 0,05). Conclusão: Uma vez que os exames utilizados para o diagnóstico de BS são exames clínicos e laboratoriais padrão ouro, os resultados obtidos sugerem que não há envolvimento do gene MTNR1A na etiologia do BS na população estudada.Universidade PositivoBrasilOdontologiaPPG1UPBrancher, João Armandohttp://lattes.cnpq.br/5460397708527612Gaio, Daniella Cristina2022-10-06T17:48:02Z20212022-10-06T17:48:02Z2021info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttps://repositorio.cruzeirodosul.edu.br/handle/123456789/4072porinfo:eu-repo/semantics/openAccessreponame:Repositório do Centro Universitário Braz Cubasinstname:Centro Universitário Braz Cubas (CUB)instacron:CUB2022-10-10T18:00:03Zoai:repositorio.cruzeirodosul.edu.br:123456789/4072Repositório InstitucionalPUBhttps://repositorio.brazcubas.edu.br/oai/requestbibli@brazcubas.edu.bropendoar:2022-10-10T18:00:03Repositório do Centro Universitário Braz Cubas - Centro Universitário Braz Cubas (CUB)false |
dc.title.none.fl_str_mv |
Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono |
title |
Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono |
spellingShingle |
Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono Gaio, Daniella Cristina Odontologia Bruxismo Bruxismo do sono Genética Polimorfismo genético CNPQ::CIENCIAS DA SAUDE::ODONTOLOGIA |
title_short |
Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono |
title_full |
Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono |
title_fullStr |
Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono |
title_full_unstemmed |
Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono |
title_sort |
Estudo da associação entre polimorfismos genéticos no gene Melatonin Receptor type 1a (MTNR1A) e bruxismo do sono |
author |
Gaio, Daniella Cristina |
author_facet |
Gaio, Daniella Cristina |
author_role |
author |
dc.contributor.none.fl_str_mv |
Brancher, João Armando http://lattes.cnpq.br/5460397708527612 |
dc.contributor.author.fl_str_mv |
Gaio, Daniella Cristina |
dc.subject.por.fl_str_mv |
Odontologia Bruxismo Bruxismo do sono Genética Polimorfismo genético CNPQ::CIENCIAS DA SAUDE::ODONTOLOGIA |
topic |
Odontologia Bruxismo Bruxismo do sono Genética Polimorfismo genético CNPQ::CIENCIAS DA SAUDE::ODONTOLOGIA |
description |
Introduction: Bruxism is characterized by the activity of the masticatory muscles that can happen during sleep (Sleep Bruxism, SB) and / or during wakefulness (Awake Bruxism, AB). Its etiology is multifactorial, with the participation of several physiological and psychosocial factors, in addition to external factors, but studies indicate that the genetic background of the individual seems to have an important role in the evolution of this condition. Regarding the genetic factor, several genes have been associated with Bruxism and other genes, although they have not been investigated, deserve attention. One such gene is the gene encoding the Melatonin Receptor called melatonin receptor type 1A (MTNR1A). Objective: investigate the association between the MTNR1A gene and SB in an adult population. Materials and Method: A total of 48 adults of both sexes were submitted to clinical examination by the RDC/TMD (Research Diagnostic Criteria for Temporomandibular Disorders) following the recommendations proposed by the American Academy of Sleep Medicine (AASM). Questionnaire for assessing Bruxism and Polysomnography exam were performed in all individuals. DNA samples were collected and three SNPs in the MTNR1A gene (rs13140012, rs6553010 and rs6847693) were selected and genotyped using the real-time PCR technique. Data were analyzed using the Epi Info 3.5.7 and Stata programs (StataCorp, College Station, TX, USA, version 11) considering the allelic, genotypic, dominant or recessive models. PLINK 1.07 (https://zzz.bwh.harvard.edu/plink/index.shtml) program was used for haplotype analysis. The Hardy-Weinberg balance was assessed using the chi-square test for each polymorphism included in this study. The level of statistical significance was set at 95% (p <0.05). Results: 48 individuals (27 men and 21 women, aged between 21 and 80 years) were included in the study. 17 individuals diagnosed with SB (11 men and 6 women) were included in the affected group. Another 31 individuals (16 men and 15 women) were diagnosed no bruxism and were included in the unaffected group. Regarding genetic polymorphisms, all were in Hardy-Weinberg equilibrium, and the chi-square for rs6553010, rs13140012 and rs6847693 were 2.2, 0.67 and 2.12, respectively. No associations were found between SB and the SNPs studied both in the genotypic model and in the allelic, dominant and recessive models (p> 0.05). Haplotype genetic analysis also did not reveal any association between SNPs and SB (p> 0.05). Conclusion: Since the tests used for the diagnosis of SB are gold standard clinical and laboratory tests, the obtained results are suggestive that there is no involvement of the MTNR1A gene in the etiology of SB in the studied population. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021 2021 2022-10-06T17:48:02Z 2022-10-06T17:48:02Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/masterThesis |
format |
masterThesis |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://repositorio.cruzeirodosul.edu.br/handle/123456789/4072 |
url |
https://repositorio.cruzeirodosul.edu.br/handle/123456789/4072 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade Positivo Brasil Odontologia PPG1 UP |
publisher.none.fl_str_mv |
Universidade Positivo Brasil Odontologia PPG1 UP |
dc.source.none.fl_str_mv |
reponame:Repositório do Centro Universitário Braz Cubas instname:Centro Universitário Braz Cubas (CUB) instacron:CUB |
instname_str |
Centro Universitário Braz Cubas (CUB) |
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CUB |
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CUB |
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Repositório do Centro Universitário Braz Cubas |
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Repositório do Centro Universitário Braz Cubas |
repository.name.fl_str_mv |
Repositório do Centro Universitário Braz Cubas - Centro Universitário Braz Cubas (CUB) |
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bibli@brazcubas.edu.br |
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1798311354734477312 |