1. Universidade Federal da Bahia
  2. Instituto de Ciências da Saúde (ICS)
  3. Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas (PPGPIOS)
  4. Dissertação (PPGPIOS)
Use este identificador para citar ou linkar para este item: https://repositorio.ufba.br/handle/ri/39225
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Campo DCValorIdioma
dc.creatorCarneiro, Jaiza Kênsuly Moura Pinheiro-
dc.date.accessioned2024-03-22T19:02:29Z-
dc.date.available2026-03-22-
dc.date.available2024-03-22T19:02:29Z-
dc.date.issued2023-12-12-
dc.identifier.citationCARNEIRO, Jaiza Kênsuly Moura Pinheiro. Associação de variantes genéticas do gene NELL1 com a presença da periodontite. 2023. 74 f. Dissertação (Mestrado em Processos Interativos dos Órgãos e Sistemas) - Instituto de Ciências da Saúde, Universidade Federal da Bahia, Salvador, 2023.pt_BR
dc.identifier.urihttps://repositorio.ufba.br/handle/ri/39225-
dc.description.abstractIntroduction: Periodontitis is an inflammatory disease due to complex interactions between a dysbiotic oral microbiota and the host's immune response. Genetic, environmental, and systemic aspects may be associated with periodontitis. Candidate gene studies and genome-wide association studies (GWAS) seek to identify correlations between variants in genes and periodontitis. The NELL1 gene encodes a cytoplasmic protein that contains epidermal growth factor (EGF)-like repeats and its genetic variants may be involved in the regulation of differentiation and cell growth, related to the encoded NELL-1 protein. Purpose: Investigate the association between genetic variants of the NELL1 gene and periodontitis. Materials and Methods: A cross-sectional study was carried out with 506 unrelated adult individuals, classified as having the presence (n=117) or absence (n=389) of periodontitis, recruited through the Program for Asthma Control in Bahia (ProAR). Through a questionnaire and an interview, pieces of information were obtained about sociodemographic characteristics, habits and lifestyle, and medical and dental history. After the oral examination, individuals with at least 4 teeth with at least 1 site with a probing depth ≥ 4 mm, clinical attachment level ≥ 3 mm, and bleeding upon stimulation in the same location were classified as periodontitis. Genotyping was performed using the Illumina Infinium Multi-Ethnic kit. The association analysis was carried out in the Plink 1.9 software using multivariate logistic regression adjusted for age greater than or equal to 40 years, obesity, mouth breathing habits, use of dental floss, asthma, and ancestry. Results: Twenty-five variants of the NELL1 single nucleotide (SNV) gene were positively associated with periodontitis and 14 variants were negatively associated. Correlations referring to age, obesity, mouth breathing habits, dental flossing, and asthma were observed. The alleles of the variants rs10766721-A, rs74326837-A, and rs76391583-G were positively related to periodontitis. Variants rs6483735-A, rs919476-A, rs111375391-G were positively associated with periodontitis. The C allele of rs10766743 was negatively associated with periodontitis. In the rs34835859 variant, individuals with the C/A genotype in the additive model, who use dental floss, are 2.45 times more likely to develop periodontitis, (OR = 2.45; 95% CI = 1.17-5, 12; p-value = 0.026). People aged 40 years or older, with the G/G genotype in the rs7130084 variant, are 2.88 times more likely to develop periodontitis (OR = 2.88; 95% CI = 1.35 – 6.13; value p = 0.035) than people with the same genotype and age greater than or equal to 40 years. Conclusion: In this study, variants of the NELL1 gene were associated with periodontitis. In the gene-environment analysis, the covariates obesity, lack of flossing use, presence of asthma, and age greater than or equal to 40 years are linked to variants associated with the development of periodontitis. Future prospective studies should be carried out to test the hypothesis of the influence and functionality of these variants described in the present study.pt_BR
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)pt_BR
dc.languageporpt_BR
dc.publisherUNIVERSIDADE FEDERAL DA BAHIApt_BR
dc.rightsAcesso Restrito/Embargadopt_BR
dc.subjectDoenças periodontaispt_BR
dc.subjectPeriodontitept_BR
dc.subjectFator de crescimento epidérmicopt_BR
dc.subjectPolimorfismo de nucleotídeo únicopt_BR
dc.subject.otherPeriodontal Diseasept_BR
dc.subject.otherPeriodontitispt_BR
dc.subject.otherEpidermal Growth Factorpt_BR
dc.subject.otherSingle nucleotide polymorphismpt_BR
dc.titleAssociação de variantes genéticas do gene NELL1 com a presença da periodontitept_BR
dc.title.alternativeAssociation of genetic variants of the NELL1 gene with the presence of periodontitispt_BR
dc.typeDissertaçãopt_BR
dc.publisher.programPrograma de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas (PPGORGSISTEM) pt_BR
dc.publisher.initialsUFBApt_BR
dc.publisher.countryBrasilpt_BR
dc.subject.cnpqCNPQ:CIENCIAS DA SAUDEpt_BR
dc.contributor.advisor1Carlleto, Tatiane de Oliveira Teixeira Muniz-
dc.contributor.advisor1IDhttps://orcid.org/0000-0001-7998-2569pt_BR
dc.contributor.advisor1Latteshttp://lattes.cnpq.br/4215212379864482pt_BR
dc.contributor.advisor-co1Figueiredo, Camila Alexandrina Viana de-
dc.contributor.advisor-co1IDhttps://orcid.org/0000-0003-1356-6188pt_BR
dc.contributor.advisor-co1Latteshttp://lattes.cnpq.br/4758550783703417pt_BR
dc.contributor.referee1Carlletto, Tatiane de Oliveira Teixeira Muniz-
dc.contributor.referee1IDhttps://orcid.org/0000-0001-7998-2569pt_BR
dc.contributor.referee1Latteshttp://lattes.cnpq.br/4215212379864482pt_BR
dc.contributor.referee2Carneiro, Valdirene Leão-
dc.contributor.referee2IDhttps://orcid.org/0000-0003-0655-3362pt_BR
dc.contributor.referee2Latteshttp://lattes.cnpq.br/7155021914090763pt_BR
dc.contributor.referee3Alves, Quiara Lovatti-
dc.contributor.referee3IDhttps://orcid.org/0000-0001-7757-8407pt_BR
dc.contributor.referee3Latteshttp://lattes.cnpq.br/9889223737424815pt_BR
dc.creator.IDhttps://orcid.org/0000-0002-5439-3175pt_BR
dc.creator.Latteshttp://lattes.cnpq.br/9433567864447442pt_BR
dc.description.resumoIntrodução: A periodontite é uma doença inflamatória que ocorre por interações complexas entre uma microbiota oral disbiótica e uma resposta imunológica do hospedeiro. Aspectos genéticos, ambientais e sistêmicos podem estar associados à periodontite. Estudos de genes candidatos e estudos de ampla associação do genoma (GWAS) buscam identificar associações entre variantes nos genes e a periodontite. O gene NELL1 codifica uma proteína citoplasmática que contém repetições semelhantes ao fator de crescimento epidérmico (EGF) e suas variantes genéticas podem estar envolvidas na regulação da diferenciação e do crescimento celular, relacionadas a proteína NELL-1 codificada. Objetivo: Investigar a associação entre variantes genéticas do gene NELL1 e a periodontite. Materiais e Métodos: Foi realizado um estudo transversal com 506 indivíduos adultos, não aparentados, classificados com presença (n=117) ou ausência (n=389) de periodontite, recrutados através do Programa para controle da Asma na Bahia (ProAR). Através de um questionário e entrevista, foram obtidas informações sobre características sociodemográficas, hábitos e estilo de vida, histórico médico e odontológico. Após a realização do exame oral, foram classificados com periodontite os indivíduos que apresentavam pelo menos 4 dentes com ao menos 1 sítio com profundidade de sondagem ≥ 4 mm; nível de inserção clínica ≥ 3 mm e sangramento ao estímulo no mesmo local. A genotipagem foi realizada utilizando o kit Illumina Infinium Multi-Ethnic. A análise de associação foi realizada no software Plink 1.9 através da regressão logística multivariada ajustada por idade maior ou igual a 40 anos, obesidade, hábito de respirar pela boca, uso de fio dental, asma e ancestralidade. Resultados: Foram associadas positivamente à periodontite 25 variantes de nucleotídeo único (SNV) do gene NELL1 e 14 variantes associadas negativamente. Foram observadas associações que dizem respeito à idade, obesidade, hábito de respiração bucal, uso de fio dental e asma. Os alelos das variantes rs10766721-A, rs74326837-A e rs76391583-G foram positivamente associados com a periodontite. As variantes rs6483735-A, rs919476-A e rs111375391-G foram positivamente associadas à periodontite. O alelo C do rs10766743 foi negativamente ligado a periodontite. Na variante rs34835859, indivíduos com o genótipo C/A no modelo aditivo, que utilizam o fio dental, apresentam 2,45 vezes a mais de chances de desenvolver periodontite, (OR = 2,45; IC95%= 1,17-5,12; valor de p = 0,026). Pessoas com idade maior ou igual a 40 anos, com genótipo G/G na variante rs7130084, possuem 2,88 vezes a mais de chances de desenvolver periodontite (OR = 2,88; IC95% = 1,35 – 6,13; valor de p = 0,035) do que pessoas com o mesmo genótipo e idade maior ou igual a 40 anos. Conclusão: Neste estudo, Variantes do gene NELL1 foram associadas à periodontite. Na análise de gene-ambiente, as covariáveis obesidade, o não uso do fio dental, a presença de asma e a idade superior ou igual a 40 anos foram vinculadas às variantes relacionadas ao desenvolvimento da periodontite. Estudos prospectivos futuros devem ser realizados para testar a hipótese da influência e funcionalidade dessas variantes descritas no presente estudo.pt_BR
dc.publisher.departmentInstituto de Ciências da Saúde - ICSpt_BR
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