Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A)
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Repositório do Centro Universitário Braz Cubas |
Texto Completo: | https://repositorio.cruzeirodosul.edu.br/handle/123456789/2128 |
Resumo: | Sleep is defined as a physiological process that induces a marked decrease in basal body metabolism in addition to a decrease in the ability of immediate motor response. Several factors can alter and affect the quality of sleep, including the genetic background. The Melatonin Receptor Type 1 gene (MTNR1A) is a gene of special interest because it encodes the expression of melatonin, the hormone responsible for controlling circadian rhythm. The aim of this study was to investigate the association of genetic polymorphisms in the MTNR1A gene with the development of sleep disorders. The study idealized according to the STrengthening the REporting of Genetic Association Studies Declaration (Strega). Individuals of both sexes were interviewed, all adults aged between 17 a 60 years, and who were waiting for dental care at Universidade Positivo, Universidade Federal do Paraná and in a private clinic. The Sleep Assessment Quality (SAQ) structured questionnaire was used to assess sleep disorders, which contains questions about different sleep domains (Insomnia, Sleep time disturbances, Sleep Apnea, Restlessness, Non-restorative sleep, Daytime sleepiness excessive) and the answers can be validated with scores from 0 to 4 (4 = always; 3 = often; 2 = sometimes ;; 1 = rarely and 0 = never). The genomic DNA used for molecular analyzes was extracted from oral cells. The genetic polymorphisms in MTNR1A (rs13140012, rs6553010 and rs6847693) were genotyped using the StepOnePlus ™ Real-Time PCR System. The date were analyzed using the Epi Info 7.2 program with a 0.05 level and significance to compare the distributions of alleles and genotypes between groups with sleep disorders and without sleep disorders in the genotypic, allelic models, and in the recessive and dominant additive models. Eighty individuals participated in the study, 50 (62.5%) were female and 30 (37.5%) were male, with an average age of 30.5. A significant association (p <0.05) was observed in the analysis of the general SAQ with the rs13140012 polymorphism in both the genotypic distribution model (p = 0.02) and in the allelic model (p = 0.008). In the analysis by the allelic model it can be suggested that individuals who have allele A in rs13140012, do not have sleep disorders and that the T allele in the recessive model (TT + AT) was associated with sleep disorder (p <0.05). This study revealed that the MTNR1A gene, polymorphism rs13140012, is associated with sleep disorder in all tested genetic models and it appears that the presence of the T allele is a risk factor for the development of the disorder. |
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Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A)OdontologiaSono - qualidadeMelatoninaPolimorfismo genéticoCNPQ::CIENCIAS DA SAUDE::ODONTOLOGIASleep is defined as a physiological process that induces a marked decrease in basal body metabolism in addition to a decrease in the ability of immediate motor response. Several factors can alter and affect the quality of sleep, including the genetic background. The Melatonin Receptor Type 1 gene (MTNR1A) is a gene of special interest because it encodes the expression of melatonin, the hormone responsible for controlling circadian rhythm. The aim of this study was to investigate the association of genetic polymorphisms in the MTNR1A gene with the development of sleep disorders. The study idealized according to the STrengthening the REporting of Genetic Association Studies Declaration (Strega). Individuals of both sexes were interviewed, all adults aged between 17 a 60 years, and who were waiting for dental care at Universidade Positivo, Universidade Federal do Paraná and in a private clinic. The Sleep Assessment Quality (SAQ) structured questionnaire was used to assess sleep disorders, which contains questions about different sleep domains (Insomnia, Sleep time disturbances, Sleep Apnea, Restlessness, Non-restorative sleep, Daytime sleepiness excessive) and the answers can be validated with scores from 0 to 4 (4 = always; 3 = often; 2 = sometimes ;; 1 = rarely and 0 = never). The genomic DNA used for molecular analyzes was extracted from oral cells. The genetic polymorphisms in MTNR1A (rs13140012, rs6553010 and rs6847693) were genotyped using the StepOnePlus ™ Real-Time PCR System. The date were analyzed using the Epi Info 7.2 program with a 0.05 level and significance to compare the distributions of alleles and genotypes between groups with sleep disorders and without sleep disorders in the genotypic, allelic models, and in the recessive and dominant additive models. Eighty individuals participated in the study, 50 (62.5%) were female and 30 (37.5%) were male, with an average age of 30.5. A significant association (p <0.05) was observed in the analysis of the general SAQ with the rs13140012 polymorphism in both the genotypic distribution model (p = 0.02) and in the allelic model (p = 0.008). In the analysis by the allelic model it can be suggested that individuals who have allele A in rs13140012, do not have sleep disorders and that the T allele in the recessive model (TT + AT) was associated with sleep disorder (p <0.05). This study revealed that the MTNR1A gene, polymorphism rs13140012, is associated with sleep disorder in all tested genetic models and it appears that the presence of the T allele is a risk factor for the development of the disorder.O sono é definido como um processo fisiológico que induz a uma diminuição acentuada do metabolismo corpóreo basal além da diminuição da capacidade de resposta motora imediata. Diversos fatores podem alterar e afetar a qualidade do sono, entre eles, o background genético. O gene Melatonin Receptor Type 1 (MTNR1A) é um gene de especial interesse porque codifica a expressão de melatonina, hormônio responsável por controlar o ritmo circadiano. O objetivo deste estudo foi investigar a associação de polimorfismos genéticos no gene MTNR1A com o desenvolvimento de distúrbios do sono. O estudo idealizado de acordo com a Declaração do STrengthening the REporting of Genetic Association Studies (STREGA). Foram entrevistados indivíduos de ambos os sexos, todos adultos com idades variando entre 17 e 60 anos, e que aguardavam atendimento odontológico na Universidade Positivo, Universidade Federal do Paraná e em clínica privada. Para a avaliação dos distúrbios do sono foi utilizado o questionário estruturado Sleep Assessment Quality (SAQ), que contém perguntas a respeito de diferentes domínios do sono (Insônia, Distúrbios de tempo de sono, Apneia do Sono, Inquietação, Sono não restaurador, Sonolência diurna excessiva) e as respostas podem ser validadas com pontuações de 0 a 4 (4= sempre; 3= frequentemente; 2= as vezes,; 1= raramente e 0= nunca). O DNA genômico utilizado para as análises moleculares foi extraído das células bucais. Os polimorfismos genéticos em MTNR1A (rs13140012, rs6553010 e rs6847693) foram genotipados utilizando o aparelho StepOnePlus™ RealTime PCR System. Os dados foram analisados no programa Epi Info 7.2 com nível e significância de 0,05 para comparar as distribuições de alelos e genótipos entre os grupos com distúrbios do sono e sem distúrbios do sono nos modelos genotípico, alélico, e nos modelos aditivos recessivo e dominante. Participaram do estudo 80 indivíduos, sendo 50 (62,5%) do sexo feminino e 30 (37,5%) do sexo masculino com média de idade de 30,5. Foi observada uma associação significativa (p<0,05) na análise do SAQ geral com o polimorfismo rs13140012 tanto no modelo distribuição genotípico (p=0,02) quanto no modelo alélico (p=0,008). Na análise pelo modelo alélico pode-se sugerir que indivíduos que possuem o alelo A no rs13140012, não possuem distúrbios do sono e que o alelo T no modelo recessivo (TT+AT) foi associado com distúrbio do sono (p<0,05). Este estudo revelou que o gene MTNR1A, polimorfismo rs13140012, está associado ao distúrbio do sono em todos os modelos genéticos testados e parece que a presença do alelo T é fator de risco para desenvolvimento do distúrbioUniversidade PositivoBrasilPrograma de Pós-Graduação em Odontologia ClínicaPrograma de Pós-Graduação em Odontologia ClínicaUPBrancher, João Armandohttp://lattes.cnpq.br/5460397708527612Scariot, Rafaelahttp://lattes.cnpq.br/8726711027143249Ecker, Mainara Bassetto2021-05-11T20:36:31Z20202021-05-11T20:36:31Z2020info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisapplication/pdfhttps://repositorio.cruzeirodosul.edu.br/handle/123456789/2128porinfo:eu-repo/semantics/openAccessreponame:Repositório do Centro Universitário Braz Cubasinstname:Centro Universitário Braz Cubas (CUB)instacron:CUB2021-06-17T18:31:53Zoai:repositorio.cruzeirodosul.edu.br:123456789/2128Repositório InstitucionalPUBhttps://repositorio.brazcubas.edu.br/oai/requestbibli@brazcubas.edu.bropendoar:2021-06-17T18:31:53Repositório do Centro Universitário Braz Cubas - Centro Universitário Braz Cubas (CUB)false |
dc.title.none.fl_str_mv |
Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A) |
title |
Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A) |
spellingShingle |
Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A) Ecker, Mainara Bassetto Odontologia Sono - qualidade Melatonina Polimorfismo genético CNPQ::CIENCIAS DA SAUDE::ODONTOLOGIA |
title_short |
Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A) |
title_full |
Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A) |
title_fullStr |
Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A) |
title_full_unstemmed |
Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A) |
title_sort |
Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A) |
author |
Ecker, Mainara Bassetto |
author_facet |
Ecker, Mainara Bassetto |
author_role |
author |
dc.contributor.none.fl_str_mv |
Brancher, João Armando http://lattes.cnpq.br/5460397708527612 Scariot, Rafaela http://lattes.cnpq.br/8726711027143249 |
dc.contributor.author.fl_str_mv |
Ecker, Mainara Bassetto |
dc.subject.por.fl_str_mv |
Odontologia Sono - qualidade Melatonina Polimorfismo genético CNPQ::CIENCIAS DA SAUDE::ODONTOLOGIA |
topic |
Odontologia Sono - qualidade Melatonina Polimorfismo genético CNPQ::CIENCIAS DA SAUDE::ODONTOLOGIA |
description |
Sleep is defined as a physiological process that induces a marked decrease in basal body metabolism in addition to a decrease in the ability of immediate motor response. Several factors can alter and affect the quality of sleep, including the genetic background. The Melatonin Receptor Type 1 gene (MTNR1A) is a gene of special interest because it encodes the expression of melatonin, the hormone responsible for controlling circadian rhythm. The aim of this study was to investigate the association of genetic polymorphisms in the MTNR1A gene with the development of sleep disorders. The study idealized according to the STrengthening the REporting of Genetic Association Studies Declaration (Strega). Individuals of both sexes were interviewed, all adults aged between 17 a 60 years, and who were waiting for dental care at Universidade Positivo, Universidade Federal do Paraná and in a private clinic. The Sleep Assessment Quality (SAQ) structured questionnaire was used to assess sleep disorders, which contains questions about different sleep domains (Insomnia, Sleep time disturbances, Sleep Apnea, Restlessness, Non-restorative sleep, Daytime sleepiness excessive) and the answers can be validated with scores from 0 to 4 (4 = always; 3 = often; 2 = sometimes ;; 1 = rarely and 0 = never). The genomic DNA used for molecular analyzes was extracted from oral cells. The genetic polymorphisms in MTNR1A (rs13140012, rs6553010 and rs6847693) were genotyped using the StepOnePlus ™ Real-Time PCR System. The date were analyzed using the Epi Info 7.2 program with a 0.05 level and significance to compare the distributions of alleles and genotypes between groups with sleep disorders and without sleep disorders in the genotypic, allelic models, and in the recessive and dominant additive models. Eighty individuals participated in the study, 50 (62.5%) were female and 30 (37.5%) were male, with an average age of 30.5. A significant association (p <0.05) was observed in the analysis of the general SAQ with the rs13140012 polymorphism in both the genotypic distribution model (p = 0.02) and in the allelic model (p = 0.008). In the analysis by the allelic model it can be suggested that individuals who have allele A in rs13140012, do not have sleep disorders and that the T allele in the recessive model (TT + AT) was associated with sleep disorder (p <0.05). This study revealed that the MTNR1A gene, polymorphism rs13140012, is associated with sleep disorder in all tested genetic models and it appears that the presence of the T allele is a risk factor for the development of the disorder. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020 2020 2021-05-11T20:36:31Z 2021-05-11T20:36:31Z |
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/123456789/2128 |
url |
https://repositorio.cruzeirodosul.edu.br/handle/123456789/2128 |
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 Programa de Pós-Graduação em Odontologia Clínica Programa de Pós-Graduação em Odontologia Clínica UP |
publisher.none.fl_str_mv |
Universidade Positivo Brasil Programa de Pós-Graduação em Odontologia Clínica Programa de Pós-Graduação em Odontologia Clínica 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 |
reponame_str |
Repositório do Centro Universitário Braz Cubas |
collection |
Repositório do Centro Universitário Braz Cubas |
repository.name.fl_str_mv |
Repositório do Centro Universitário Braz Cubas - Centro Universitário Braz Cubas (CUB) |
repository.mail.fl_str_mv |
bibli@brazcubas.edu.br |
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1798311349051195392 |