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dc.creatorMoura, Swany Santa Luzia de-
dc.date.accessioned2024-02-19T15:40:17Z-
dc.date.available2024-02-19T15:40:17Z-
dc.date.issued2023-12-11-
dc.identifier.citationMOURA, Swany Santa Luzia de. Influência de variantes genéticas dos genes SEPT7 e FMN1 na periodontite. 2023. 59 f. Dissertação (Mestrado) - Universidade Federal da Bahia, Instituto de Ciências da Saúde, Programa de Pós-Graduação em Processos Interativos dos Órgãos e Sistemas, Salvador, 2023.pt_BR
dc.identifier.urihttps://repositorio.ufba.br/handle/ri/39037-
dc.description.abstractIntroduction: Periodontitis is an inflammatory disease caused by the interaction between the dysbiotic bacterial biofilm and the host immune response that affects the tissues of dental support, which can lead to loss of dental unit. As it is a complex, multifactorial, and polygenic disease, genetic, environmental, and systemic aspects may be involved. Genetic variants can influence the immune response and other mechanisms, such as those that can be regulated by variants of the SEPT7 and FMN1 genes. These genes participate in the process of cell division, microtubule dynamics, and actin filaments. Goal: To investigate the association of genetic variants in the SEPT7 and FMN1 genes with periodontitis. Methods: A cross-sectional study developed with 506 participants in the Asthma Control Program in Bahia, classified as presence (n=117) or absence (n=389) of periodontitis. An interview was carried out to obtain data and a complete oral examination. For the diagnosis of periodontitis, individuals had at least 4 teeth with ≥ 1 site with probing depth ≥ 4 mm; clinical attachment level ≥ 3 mm, and bleeding on stimulus in the same location. Genotyping was performed by using the Illumina Infinium Multi-Ethnic AMR/AFR-8 kit. The association analysis was carried out by using the Plink 1.9 software using multivariate logistic regression adjusted for the covariates of age, obesity, mouth breathing, dental flossing, asthma, and ancestry. The NCBI, RegulomeDB, Haploview 4.2, rSNPBase, and Gtex platforms were analyzed in silico analyses. Results: 5 SNVs from the SEPT7 gene were positively associated with periodontitis, and of the 15 SNVs from the FMN1 gene, 8 were positively associated and 7 negatively. Outcomes related to age and flossing were observed, in which having a certain SNV may be positively or negatively associated with the development of periodontitis. The cytokines IL-5 and IL-13 were associated with SEPT7 SNVs (rs12532523 and rs6462629); and FMN1 variants were associated with the cytokines’ interferon-gamma, IL-17A, IL-10, and IL-5. Discussion: First association study of variants of the SEPT7 and FMN1 candidate genes with periodontitis. Genetic variants of these genes were associated with periodontitis in a genome-wide scanning study (GWAS) in a Brazilian population, with limitations regarding comparisons with other studies due to the scarcity of reports on these genes and the disease in question. Gene-environment interaction analysis revealed that there is a relationship between studied genetic variants and the development of periodontitis based on covariates such as age and dental floss use. Conclusion: Variants in the SEPT7 and FMN1 genes were associated with periodontitis, reinforcing the influence of genetics on the development of periodontitis and the need for new studies with a larger sample size that corroborate the data found.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.subjectVariante genéticapt_BR
dc.subjectSEPT7pt_BR
dc.subjectFMN1pt_BR
dc.subjectPeriodontitept_BR
dc.subjectPolimorfismo Genéticopt_BR
dc.subject.otherGenetic variantpt_BR
dc.subject.otherSEPT7pt_BR
dc.subject.otherFMN1pt_BR
dc.subject.otherPeriodontitispt_BR
dc.subject.otherPolymorphism, Geneticpt_BR
dc.titleInfluência de variantes genéticas dos genes SEPT7 e FMN1 na periodontitept_BR
dc.title.alternativeInfluence of genetic variants of SEPT7 and FMN1 genes on 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 BIOLOGICAS::GENETICApt_BR
dc.subject.cnpqCNPQ::CIENCIAS BIOLOGICAS::IMUNOLOGIApt_BR
dc.subject.cnpqCNPQ::CIENCIAS DA SAUDE::ODONTOLOGIApt_BR
dc.contributor.advisor1Carletto, 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.referee1Carletto, 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.referee2Costa, Ryan dos Santos-
dc.contributor.referee2IDhttps://orcid.org/0000-0003-3075-0729pt_BR
dc.contributor.referee2Latteshttp://lattes.cnpq.br/5160677682637662pt_BR
dc.contributor.referee3Lima, Ana Tereza Cerqueira-
dc.contributor.referee3Latteshttp://lattes.cnpq.br/0938377001382270pt_BR
dc.creator.IDhttps://orcid.org/0000-0002-9414-3525pt_BR
dc.creator.Latteshttp://lattes.cnpq.br/1835164608400176pt_BR
dc.description.resumoIntrodução: A periodontite é uma doença de caráter inflamatório, causada pela interação entre o biofilme bacteriano disbiótico e a resposta imune do hospedeiro que afeta os tecidos de suporte do dente e pode levar à perda da unidade dental. Por ser uma doença complexa, multifatorial e de caráter poligênico, podem estar envolvidos aspectos genéticos, ambientais e sistêmicos. Variantes genéticas podem influenciar na resposta imunológica e em outros mecanismos, como os que podem ser regulados por variantes dos genes SEPT7 e FMN1. Genes relacionados ao processo de divisão celular através da dinâmica dos microtúbulos e filamentos de actina. Objetivo: Investigar a associação de variantes genéticas nos genes SEPT7 e FMN1 com a periodontite. Métodos: Estudo transversal desenvolvido com 506 participantes do Programa para Controle de Asma na Bahia, classificados com presença (n=117) ou ausência (n=389) de periodontite. Realizou-se uma entrevista para obtenção de dados e um exame oral completo. Para o diagnóstico de periodontite, os indivíduos apresentavam pelo menos 4 dentes com ≥ 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 AMR/AFR-8. A análise de associação foi elaborada no software Plink 1.9 através da regressão logística multivariada ajustada para covariáveis idade, obesidade, respiração bucal, uso de fio dental, asma e ancestralidade. As plataformas NCBI, RegulomeDB, Haploview 4.2, rSNPBase e Gtex foram usadas para as análises in silico. Resultados: 5 SNV do gene SEPT7 foram associados positivamente à periodontite e, dos 15 SNV do gene FMN1, 8 foram associados positivamente e 7 negativamente. Foram observados desfechos relacionados a idade e ao uso de fio dental, no qual possuir determinado SNV pode estar associado de forma positiva ou negativa ao desenvolvimento da periodontite. As citocinas IL-5 e a IL-13 foram associadas aos SNV do SEPT7 (rs12532523 e rs6462629); e variantes do FMN1 foram associadas às citocinas interferon-gama, IL-17A, IL-10 e IL-5. Discussão: Primeiro estudo de associação de variantes dos genes candidatos SEPT7 e FMN1 com a periodontite. Variantes genéticas desses genes foram associados à periodontite em um estudo de ampla varredura genômica (GWAS) em uma população brasileira, com limitações no que se refere a comparações com outros estudos por conta da escassez de relatos sobre esses genes e a doença em questão. A análise de interação gene-ambiente revelou que existe uma relação entre variantes genéticas estudadas e o desenvolvimento de periodontite baseado em covariáveis como idade e uso de fio dental. Conclusão: Variantes nos genes SEPT7 e FMN1 apresentaram associação com periodontite, reforçando a influência da genética no desenvolvimento da periodontite e a necessidade de novos estudos que corroborem com os dados encontrados.pt_BR
dc.publisher.departmentInstituto de Ciências da Saúde - ICSpt_BR
dc.relation.references1. Meyle J, Chapple I. Molecular aspects of the pathogenesis of periodontitis. Periodontol 2000 [Internet]. 7 ago 2015 [citado 19 ago 2023];69(1):7-17. Disponível em: https://doi.org/10.1111/prd.12104 2. Saito MT, Mofatto LS, Albiero ML, Casati MZ, Sallum EA, Nociti FH Junior, et al. Transcriptome profile of highly osteoblastic/cementoblastic periodontal ligament cell clones. J Appl Oral Sci [Internet]. 2020 [citado 26 set 2023];28. Disponível em: https://doi.org/10.1590/1678-7757-2020-0242 3. Tonetti MS, Greenwell H, Kornman KS. Staging and grading of periodontitis: framework and proposal of a new classification and case definition. J Clin Periodontol [Internet]. Jun 2018 [citado 10 ago 2023];45:S149—S161. Disponível em: https://doi.org/10.1111/jcpe.12945 4. Frencken JE, Sharma P, Stenhouse L, Green D, Laverty D, Dietrich T. Global epidemiology of dental caries and severe periodontitis - a comprehensive review. J Clin Periodontol [Internet]. mar 2017 [citado 14 set 2023];44:S94—S105. Disponível em: https://doi.org/10.1111/jcpe.12677 5. Souto GR, Queiroz CM Junior, Abreu MH, Costa FO, Mesquita RA. Pro-inflammatory, Th1, Th2, Th17 Cytokines and dendritic cells: a cross-sectional study in chronic periodontitis. PLoS One [Internet]. 26 mar 2014 [citado 27 ago 2023];9(3):e91636. Disponível em: https://doi.org/10.1371/journal.pone.0091636 6. Socransky SS, Haffajee AD, Cugini MA, Smith C, Kent RL. Microbial complexes in subgingival plaque. J Clin Periodontol [Internet]. Fev 1998 [citado 13 jul 2023];25(2):134-44. Disponível em: https://doi.org/10.1111/j.1600-051x.1998.tb02419.x 7. Kwon T, Lamster IB, Levin L. Current concepts in the management of periodontitis. Int Dent J [Internet]. 5 dez 2020 [citado 14 set 2023]. Disponível em: https://doi.org/10.1111/idj.12630 8. Freer-Rojas A, Martínez-Garibay L, Torres-Méndez F, Dávila-Pérez C, Martínez-Castañón G, Patiño-Marín N, et al. Macrophage migration inhibitory factor gene polymorphisms as exacerbating factors of apical periodontitis. Adv Clin Exp Med [Internet]. 19 maio 2020 [citado 16 set 2023];29(5):597-602. Disponível em: https://doi.org/10.17219/acem/121508 9. Rimachi Hidalgo MA, Cirelli T, Silva BR, Nicchio IG, Nepomuceno R, Orrico SR, et al. Polymorphisms and haplotypes in the Interleukin 17 Alfa gene: potential effect of smoking habits in the association with periodontitis and type 2 diabetes mellitus. Mol Biol Rep [Internet]. Fev 2021 [citado 11 set 2023];48(2):1103-14. Disponível em: https://doi.org/10.1007/s11033-021-06172-9 10. Cirelli T, Nepomuceno R, Rios AC, Orrico SR, Cirelli JA, Theodoro LH, et al. Genetic polymorphisms in the Interleukins IL1B, IL4, and IL6 are associated with concomitant periodontitis and type 2 diabetes mellitus in Brazilian patients. J Periodontal Res [Internet]. 9 jul 2020 [citado 22 jul 2023];55(6):918-30. Disponível em: https://doi.org/10.1111/jre.12784 52 11. Muñoz MA, Baggio R, Steffens JP, Santos FA, Pilatti GL. Aspectos genéticos e imunológicos da periodontite agressiva. Rev Sul-Bras Odontol. 2010 mar;7(1):90-4 12. Susin C, Haas AN, Albandar JM. Epidemiology and demographics of aggressive periodontitis. Periodontol 2000 [Internet]. 17 abr 2014 [citado 7 ago 2023];65(1):27-45. Disponível em: https://doi.org/10.1111/prd.12019 13. Kinane DF, Hart TC. Genes and gene polymorphisms associated with periodontal disease. Crit Rev Oral Biol Amp Med [Internet]. Nov 2003 [citado 13 jul 2023];14(6):430-49. Disponível em: https://doi.org/10.1177/154411130301400605 14. Zacarias JM, Sippert EÂ, Tsuneto PY, Visentainer JE, Silva CD, Sell AM. The Influence of interleukin17A and IL17F polymorphisms on chronic periodontitis disease in brazilian patients. Mediat Inflamm [Internet]. 2015 [citado 12 ago 2023];2015:1-8. Disponível em: https://doi.org/10.1155/2015/147056 15. Byeon S, Werner B, Falter R, Davidsen K, Snyder C, Ong SE, et al. Proteomic identification of phosphorylation-dependent Septin 7 interactors that drive dendritic spine formation. Front Cell Dev Biol [Internet]. 4 maio 2022 [citado 21 ago 2023];10. Disponível em: https://doi.org/10.3389/fcell.2022.836746 16. Grant MM, Creese AJ, Barr G, Ling MR, Scott AE, Matthews JB, Griffiths HR, Cooper HJ, Chapple IL. Proteomic analysis of a noninvasive human model of acute inflammation and its resolution: the twenty-one day gingivitis model. J Proteome Res [Internet]. 3 set 2010 [citado 6 set 2023];9(9):4732-44. Disponível em: https://doi.org/10.1021/pr100446f 17.Gomes-Filho IS, Trindade SC, Passos-Soares JS, Figueiredo ACMG, Vianna MIP, Hintz AM, et al. Clinical diagnosis criteria for periodontal disease: an update. J Dent Health Oral Disord Ther. [Internet] 2018 [citado 14 set 2023];9(5):354–6. Disponível em: doi:10.15406/jdhodt.2018.09.00408 27 18. Kuby, J. Immunology. 3rd. New York: W. H. Freeman; 1999. 19. Lacey DL, Erdmann JM, Teitelbaum SL, Tan HL, Ohara J, Shioi A. Interleukin 4, interferon-gamma, and prostaglandin E impact the osteoclastic cell-forming potential of murine bone marrow macrophages. Endocrinology [Internet]. Jun 1995 [citado 10 ago 2023];136(6):2367-76. Disponível em: https://doi.org/10.1210/endo.136.6.7750457 20. Heidari Z, Moudi B, Mahmoudzadeh-Sagheb H, Moudi M. Analysis of interleukin-10 gene polymorphisms in patients with chronic periodontitis and healthy controls. Dent Res J [Internet]. 2018 [citado 19 ago 2023];15(1):71. Disponível em: https://doi.org/10.4103/17353327.223614 21. Heidari Z, Mahmoudzadeh-Sagheb H, Hashemi M, Rigi-Ladiz MA. Stereological analysis of interdental gingiva in chronic periodontitis patients with tumor necrosis factor-alpha (-308 G/A) gene polymorphisms. Gene Cell Tissue [Internet]. 9 mar 2014 [citado 17 set 2023];1(1). Disponível em: https://doi.org/10.17795/gct-18315 22. Heidari Z, Mahmoudzadeh Sagheb H, Sheibak N. Association between TGF-Beta1 (-509) C/T gene polymorphism and tissue degradation level in chronic periodontitis: a stereological 53 study. Gene Cell Tissue [Internet]. 25 jul 2015 [citado 20 jul 2023];2(3). Disponível em: https://doi.org/10.17795/gct-31698 23. Chaudhari HL, Warad S, Ashok N, Baroudi K, Tarakji B. Association of Interleukin-17 polymorphism (-197G/A) in chronic and localized aggressive periodontitis. Braz Oral Res [Internet]. 2016 [citado 13 jul 2023];30(1). Disponível em: https://doi.org/10.1590/18073107bor-2016.vol30.0026 24. Jovanovic DV, Di Battista JA, Martel-Pelletier J, Jolicoeur FC, He Y, Zhang M, et al. IL17 stimulates the production and expression of proinflammatory cytokines, IL-β and TNF-α, by human macrophages. J Immunol [Internet]. 1 abr 1998 [citado 30 jul 2023];160(7):351321. Disponível em: https://doi.org/10.4049/jimmunol.160.7.3513 25. Nordang GB, Viken MK, Hollis-Moffatt JE, Merriman TR, Forre OT, Helgetveit K, et al. Association analysis of the interleukin 17A gene in Caucasian rheumatoid arthritis patients from Norway and New Zealand. Rheumatology [Internet]. 30 jan 2009 [citado 18 set 2023];48(4):367-70. Disponível em: https://doi.org/10.1093/rheumatology/ken512 26. Wang JY, Shyur SD, Wang WH, Liou YH, Lin CG, Wu YJ, et al. The polymorphisms of interleukin 17A (IL17A) gene and its association with pediatric asthma in Taiwanese population. Allergy [Internet]. Jul 2009 [citado 11 set 2023];64(7):1056-60. Disponível em: https://doi.org/10.1111/j.1398-9995.2009.01950.x 27. Borilova Linhartova P, Danek Z, Deissova T, Hromcik F, Lipovy B, Szaraz D, Janos J, et al. Interleukin gene variability and periodontal bacteria in patients with generalized aggressive form of periodontitis. Int J Mol Sci [Internet]. 2 jul 2020 [citado 21 ago 2023];21(13):4728. Disponível em: https://doi.org/10.3390/ijms21134728 28. Gonzales JR, Gröger S, Haley G, Bödeker RH, Meyle J. Production of interleukin-13 is influenced by the interleukin-4 −34TT and −590TT genotype in patients with aggressive periodontitis. Scand J Immunol [Internet]. 4 jan 2011 [citado 16 set 2023];73(2):128-34. Disponível em: https://doi.org/10.1111/j.1365-3083.2010.02482.x 29. Beklen A. Effects of IL-13 on TGF-β and MMP-1 in periodontitis. Biotech AHistochem [Internet]. 4 jul 2017 [citado 22 set 2023];92(5):374-80. Disponível em: https://doi.org/10.1080/10520295.2017.1312526 30. Shi Q, Cai C, Xu J, Liu J, Liu H, Huo N. Is there an association between IFN-γ +874A/T polymorphism and periodontitis susceptibility? Medicine [Internet]. Jun 2017 [citado 24 ago 2023];96(25):e7288. Disponível em: https://doi.org/10.1097/md.0000000000007288 31. Barrientos MO, Cruz ÁA, Teixeira HM, Silva HD, Gomes-Filho IS, Trindade SC, et al. Variants in interferon gamma inducible protein 16 (IFI16) and absent in melanoma 2 (AIM2) genes that modulate inflammatory response are associated with periodontitis. Arch Oral Biol [Internet]. Fev 2023 [citado 13 ago 2023]:105640. Disponível em: https://doi.org/10.1016/j.archoralbio.2023.105640pt_BR
dc.type.degreeMestrado Acadêmicopt_BR
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