Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of applied oral science (Online) |
Texto Completo: | https://www.revistas.usp.br/jaos/article/view/214370 |
Resumo: | Periodontitis Stage III-IV, Grade C (PerioC) is a severe form of Periodontitis. The individual genetic background has been shown to be an important etiopathogenic factor for the development of this disease in young, systemically healthy, and non-smokers patients. Recently, after exome sequencing of families with a history of the disease, PerioC was associated with three single nucleotide variations (SNVs) – rs142548867 (EEFSEC), rs574301770 (ZNF136), and rs72821893 (KRT25) – which were classified as deleterious or possibly harmful by prediction algorithms. Objective: Seeking to validate these findings in a cohort evaluation, this study aims to characterize the allele and genotypic frequency of the SNVs rs142548867, rs574301770, and rs72821893 in the Brazilian population with PerioC and who were periodontally healthy (PH). Methodology: Thus, epithelial oral cells from 200 PerioC and 196 PH patients were harvested at three distinct centers at the Brazilian Southern region, their DNA were extracted, and the SNVs rs142548867, rs574301770, rs72821893 were genotyped using 5′-nuclease allelic discrimination assay. Differences in allele and genotype frequencies were analyzed using Fisher’s Exact Test. Only the SNV rs142548867 (C > T) was associated with PerioC. Results: The CT genotype was detected more frequently in patients with PerioC when compared with PH subjects (6% and 0.5% respectively), being significantly associated with PerioC (odds ratio 11.76, p=0.02). Conclusion: rs142548867 represents a potential risk for the occurrence of this disease in the Brazilian population. |
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Journal of applied oral science (Online) |
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Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian populationGeneticsAggressive periodontitisWhole Exome SequencingGenotypePeriodontitis Stage III-IV, Grade C (PerioC) is a severe form of Periodontitis. The individual genetic background has been shown to be an important etiopathogenic factor for the development of this disease in young, systemically healthy, and non-smokers patients. Recently, after exome sequencing of families with a history of the disease, PerioC was associated with three single nucleotide variations (SNVs) – rs142548867 (EEFSEC), rs574301770 (ZNF136), and rs72821893 (KRT25) – which were classified as deleterious or possibly harmful by prediction algorithms. Objective: Seeking to validate these findings in a cohort evaluation, this study aims to characterize the allele and genotypic frequency of the SNVs rs142548867, rs574301770, and rs72821893 in the Brazilian population with PerioC and who were periodontally healthy (PH). Methodology: Thus, epithelial oral cells from 200 PerioC and 196 PH patients were harvested at three distinct centers at the Brazilian Southern region, their DNA were extracted, and the SNVs rs142548867, rs574301770, rs72821893 were genotyped using 5′-nuclease allelic discrimination assay. Differences in allele and genotype frequencies were analyzed using Fisher’s Exact Test. Only the SNV rs142548867 (C > T) was associated with PerioC. Results: The CT genotype was detected more frequently in patients with PerioC when compared with PH subjects (6% and 0.5% respectively), being significantly associated with PerioC (odds ratio 11.76, p=0.02). Conclusion: rs142548867 represents a potential risk for the occurrence of this disease in the Brazilian population.Universidade de São Paulo. Faculdade de Odontologia de Bauru2023-07-17info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/jaos/article/view/21437010.1590/1678-7757-2023-0058Journal of Applied Oral Science; Vol. 31 (2023); e20230058Journal of Applied Oral Science; Vol. 31 (2023); e20230058Journal of Applied Oral Science; v. 31 (2023); e202300581678-77651678-7757reponame:Journal of applied oral science (Online)instname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/jaos/article/view/214370/196610Copyright (c) 2023 Journal of Applied Oral Sciencehttp://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessStolf, Camila SchmidtTaiete, TiagoNascimento, Paloma A. do Paz, Hélvis E. S.Sallum, Enílson AntônioRuiz, Karina Gonzalez SilvérioMárcio Zaffalon, CasatiCasarin, Renato Corrêa Viana2023-07-17T14:35:33Zoai:revistas.usp.br:article/214370Revistahttp://www.scielo.br/jaosPUBhttps://www.revistas.usp.br/jaos/oai||jaos@usp.br1678-77651678-7757opendoar:2023-07-17T14:35:33Journal of applied oral science (Online) - Universidade de São Paulo (USP)false |
dc.title.none.fl_str_mv |
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population |
title |
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population |
spellingShingle |
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population Stolf, Camila Schmidt Genetics Aggressive periodontitis Whole Exome Sequencing Genotype |
title_short |
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population |
title_full |
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population |
title_fullStr |
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population |
title_full_unstemmed |
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population |
title_sort |
Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population |
author |
Stolf, Camila Schmidt |
author_facet |
Stolf, Camila Schmidt Taiete, Tiago Nascimento, Paloma A. do Paz, Hélvis E. S. Sallum, Enílson Antônio Ruiz, Karina Gonzalez Silvério Márcio Zaffalon, Casati Casarin, Renato Corrêa Viana |
author_role |
author |
author2 |
Taiete, Tiago Nascimento, Paloma A. do Paz, Hélvis E. S. Sallum, Enílson Antônio Ruiz, Karina Gonzalez Silvério Márcio Zaffalon, Casati Casarin, Renato Corrêa Viana |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Stolf, Camila Schmidt Taiete, Tiago Nascimento, Paloma A. do Paz, Hélvis E. S. Sallum, Enílson Antônio Ruiz, Karina Gonzalez Silvério Márcio Zaffalon, Casati Casarin, Renato Corrêa Viana |
dc.subject.por.fl_str_mv |
Genetics Aggressive periodontitis Whole Exome Sequencing Genotype |
topic |
Genetics Aggressive periodontitis Whole Exome Sequencing Genotype |
description |
Periodontitis Stage III-IV, Grade C (PerioC) is a severe form of Periodontitis. The individual genetic background has been shown to be an important etiopathogenic factor for the development of this disease in young, systemically healthy, and non-smokers patients. Recently, after exome sequencing of families with a history of the disease, PerioC was associated with three single nucleotide variations (SNVs) – rs142548867 (EEFSEC), rs574301770 (ZNF136), and rs72821893 (KRT25) – which were classified as deleterious or possibly harmful by prediction algorithms. Objective: Seeking to validate these findings in a cohort evaluation, this study aims to characterize the allele and genotypic frequency of the SNVs rs142548867, rs574301770, and rs72821893 in the Brazilian population with PerioC and who were periodontally healthy (PH). Methodology: Thus, epithelial oral cells from 200 PerioC and 196 PH patients were harvested at three distinct centers at the Brazilian Southern region, their DNA were extracted, and the SNVs rs142548867, rs574301770, rs72821893 were genotyped using 5′-nuclease allelic discrimination assay. Differences in allele and genotype frequencies were analyzed using Fisher’s Exact Test. Only the SNV rs142548867 (C > T) was associated with PerioC. Results: The CT genotype was detected more frequently in patients with PerioC when compared with PH subjects (6% and 0.5% respectively), being significantly associated with PerioC (odds ratio 11.76, p=0.02). Conclusion: rs142548867 represents a potential risk for the occurrence of this disease in the Brazilian population. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-07-17 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.revistas.usp.br/jaos/article/view/214370 10.1590/1678-7757-2023-0058 |
url |
https://www.revistas.usp.br/jaos/article/view/214370 |
identifier_str_mv |
10.1590/1678-7757-2023-0058 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://www.revistas.usp.br/jaos/article/view/214370/196610 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2023 Journal of Applied Oral Science http://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2023 Journal of Applied Oral Science http://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Universidade de São Paulo. Faculdade de Odontologia de Bauru |
publisher.none.fl_str_mv |
Universidade de São Paulo. Faculdade de Odontologia de Bauru |
dc.source.none.fl_str_mv |
Journal of Applied Oral Science; Vol. 31 (2023); e20230058 Journal of Applied Oral Science; Vol. 31 (2023); e20230058 Journal of Applied Oral Science; v. 31 (2023); e20230058 1678-7765 1678-7757 reponame:Journal of applied oral science (Online) instname:Universidade de São Paulo (USP) instacron:USP |
instname_str |
Universidade de São Paulo (USP) |
instacron_str |
USP |
institution |
USP |
reponame_str |
Journal of applied oral science (Online) |
collection |
Journal of applied oral science (Online) |
repository.name.fl_str_mv |
Journal of applied oral science (Online) - Universidade de São Paulo (USP) |
repository.mail.fl_str_mv |
||jaos@usp.br |
_version_ |
1800221683582238720 |