Estudo da associação da qualidade do sono e polimorfismos genéticos no gene Melatonin Receptor Type 1A (MTNR1A)

• Ano de defesa: 2020
• Autor(a) principal: Ecker, Mainara Bassetto
• Tipo de documento: Dissertação
• Tipo de acesso: Acesso aberto
• Idioma: por
• Instituição de defesa: Universidade Positivo; Brasil; Programa de Pós-Graduação em Odontologia Clínica
• Palavras-chave em Português: Odontologia; Sono - qualidade; Melatonina; Polimorfismo genético; CNPQ::CIENCIAS DA SAUDE::ODONTOLOGIA
• Link de acesso: https://repositorio.cruzeirodosul.edu.br/handle/123456789/2128

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.