Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Biblioteca Digital de Teses e Dissertações do UNIOESTE |
Texto Completo: | http://tede.unioeste.br/handle/tede/4497 |
Resumo: | Cleft lip and palate (CLP) are the most common craniofacial congenital malformations, which may be associated or not with syndromes. The etiology of the CLPs, although not fully elucidated, includes environmental, genetic factors and their interactions. In an attempt to clarify such a question, researches have investigated the genes associated with the syndromes with occurrence of cracks in their clinical spectrum, suggesting that the analysis of these same genes may extend to the group of non-syndromic oral clefts. This study aimed to determine the association of polymorphisms contained in the GRHL3 gene (Grainyhead-like 3) with susceptibility to the development of CL/P in non-syndromic individuals, since it plays an important role in the formation of the face, in addition to related to syndromic cases of oral clefts. For this purpose, a case-control approach was used with 833 cases of CL/PNS (non-syndromic cleft lip and/or palate), with 272 non-synchronous palatine fissure-CPNS, 242 non-sindromic cleft lip-CLNS and 319 non-synchronous cleft lip and palate- CLPNS and 294 controls, from 5 different regions of Brazil. The study was carried out from the collection of buccal cells obtained through mouthwash with sucrose solution 3%, in which, after DNA isolation, genomics ancestry tests were performed, as well as the genotyping of the SNPs rs 10903078, rs 41268753 and rs 4648975 in GRHL3, in order to investigate the existence of possible associations between these with the development of CL/PNS in a sample of the Brazilian population. There was predominance for European ancestry and a significant association between the rs10903078 SNP and CLNS was observed, however there were no associations between this and the other SNP when related to the other types of oral clefts. The logistic regression analysis showed that the homozygous CC genotype of rs10903078 was associated with CLNS (OR: 1.99; 95% CI: 0.83-1.78; p = 0.03), as well as the haplotype formed by the C-C alleles of the rs10903078 and rs41268753 SNPs presented an increased frequency in croup with CLNS (p = 0.04), although these associations were not significant after Bonferroni correction for multiple comparisons. |
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Rangel , Ana Lúcia Carrinho Ayrozahttp://lattes.cnpq.br/1438147088984375Rangel , Ana Lúcia Carrinho Ayrozahttp://lattes.cnpq.br/1438147088984375Amorim , oão Paulo de Arrudahttp://lattes.cnpq.br/4100033010756626Machado , Renato Assishttp://lattes.cnpq.br/2314816506621090http://lattes.cnpq.br/4078649217197203Azevedo, Camilla de Marchi Sanches2019-10-01T16:53:29Z2019-03-25AZEVEDO, Camilla de Marchi Sanches. Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira. 2019. 64 f. Dissertação( Mestrado em Odontologia) - Universidade Estadual do Oeste do Paraná, Cascavel, 2019.http://tede.unioeste.br/handle/tede/4497Cleft lip and palate (CLP) are the most common craniofacial congenital malformations, which may be associated or not with syndromes. The etiology of the CLPs, although not fully elucidated, includes environmental, genetic factors and their interactions. In an attempt to clarify such a question, researches have investigated the genes associated with the syndromes with occurrence of cracks in their clinical spectrum, suggesting that the analysis of these same genes may extend to the group of non-syndromic oral clefts. This study aimed to determine the association of polymorphisms contained in the GRHL3 gene (Grainyhead-like 3) with susceptibility to the development of CL/P in non-syndromic individuals, since it plays an important role in the formation of the face, in addition to related to syndromic cases of oral clefts. For this purpose, a case-control approach was used with 833 cases of CL/PNS (non-syndromic cleft lip and/or palate), with 272 non-synchronous palatine fissure-CPNS, 242 non-sindromic cleft lip-CLNS and 319 non-synchronous cleft lip and palate- CLPNS and 294 controls, from 5 different regions of Brazil. The study was carried out from the collection of buccal cells obtained through mouthwash with sucrose solution 3%, in which, after DNA isolation, genomics ancestry tests were performed, as well as the genotyping of the SNPs rs 10903078, rs 41268753 and rs 4648975 in GRHL3, in order to investigate the existence of possible associations between these with the development of CL/PNS in a sample of the Brazilian population. There was predominance for European ancestry and a significant association between the rs10903078 SNP and CLNS was observed, however there were no associations between this and the other SNP when related to the other types of oral clefts. The logistic regression analysis showed that the homozygous CC genotype of rs10903078 was associated with CLNS (OR: 1.99; 95% CI: 0.83-1.78; p = 0.03), as well as the haplotype formed by the C-C alleles of the rs10903078 and rs41268753 SNPs presented an increased frequency in croup with CLNS (p = 0.04), although these associations were not significant after Bonferroni correction for multiple comparisons.As fissuras labiopalatais (FLP) são as malformações congênitas craniofaciais mais comuns, podendo apresentar-se associadas ou não a síndromes. A etiologia das FLPs, ainda que não totalmente elucidada, inclui fatores ambientais, genéticos e suas interações. Na tentativa de esclarecer tal questão, pesquisas têm investigado os genes associados as síndromes com ocorrência de fissuras em seu espectro clínico, sugerindo que a análise desses mesmos genes possa se estender para o grupo de fissuras não-sindrômicas. Este estudo teve como objetivo determinar a associação de polimorfismos contidos no gene GRHL3 (Grainyhead-like 3) com a suscetibilidade para o desenvolvimento de FL/P em indivíduos não sindrômicos, uma vez que este tem papel importante na formação da face, além de estar relacionado aos casos sindrômicos de fissuras. Para tal, foi utilizada uma abordagem caso-controle com 833 casos de FL/PNS (fissura de lábio e/ou palato não-sindrômica ), sendo 272 fissura palatina não-sindrômica - FPNS, 242 fissura labial não-sindrômica - FLNS e 319 fissura de lábio e palato não-sindromica - FLPNS e 294 controles, provenientes de 5 regiões distintas do Brasil. O trabalho foi realizado a partir da coleta de células bucais obtidas através de bochecho com solução de sacarose 3%, nas quais, após o isolamento do DNA, foram realizados testes de ancestralidade genômica, bem como a genotipagem dos SNPs rs 10903078, rs 41268753 e rs 4648975 em GRHL3, a fim de investigar a existência de possíveis associações entre estes com o desenvolvimento de FL/PNS em uma amostra da população brasileira. Houve predominância para a ancestralidade europeia e uma associação significante entre o SNP rs10903078 e a FLNS foi observada, entretanto não houveram associações entre este e os demais SNP quando relacionados para os demais tipos de fissura. A análise de regressão logística mostrou que o genótipo homozigoto CC de rs10903078 foi associado com FLNS (OR: 1,99; 95% IC: 0,83-1,78; p=0.03), assim como o haplótipo formado pelos alelos C-C dos SNPs rs10903078 e rs41268753 apresentou uma frequência aumentada no grupo com FLNS (p= 0,04), embora estas associações não tenham sido significantes após a correção de Bonferroni para comparações múltiplas.Submitted by Edineia Teixeira (edineia.teixeira@unioeste.br) on 2019-10-01T16:53:29Z No. of bitstreams: 2 Camilla_Azevedo_2019.pdf: 2014554 bytes, checksum: c0190752b696bb119dde7932065995ef (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Made available in DSpace on 2019-10-01T16:53:29Z (GMT). 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dc.title.por.fl_str_mv |
Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira |
dc.title.alternative.eng.fl_str_mv |
Association of polymorphisms in the GRHL3 gene with non-syndromic cleft lip and/or palate in a brazilian population |
title |
Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira |
spellingShingle |
Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira Azevedo, Camilla de Marchi Sanches Fissura labial Fissura palatina Polimorfismo genético Cleft lip Cleft palate Genetic polymorphism CIENCIAS DA SAUDE::ODONTOLOGIA |
title_short |
Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira |
title_full |
Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira |
title_fullStr |
Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira |
title_full_unstemmed |
Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira |
title_sort |
Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira |
author |
Azevedo, Camilla de Marchi Sanches |
author_facet |
Azevedo, Camilla de Marchi Sanches |
author_role |
author |
dc.contributor.advisor1.fl_str_mv |
Rangel , Ana Lúcia Carrinho Ayroza |
dc.contributor.advisor1Lattes.fl_str_mv |
http://lattes.cnpq.br/1438147088984375 |
dc.contributor.referee1.fl_str_mv |
Rangel , Ana Lúcia Carrinho Ayroza |
dc.contributor.referee1Lattes.fl_str_mv |
http://lattes.cnpq.br/1438147088984375 |
dc.contributor.referee2.fl_str_mv |
Amorim , oão Paulo de Arruda |
dc.contributor.referee2Lattes.fl_str_mv |
http://lattes.cnpq.br/4100033010756626 |
dc.contributor.referee3.fl_str_mv |
Machado , Renato Assis |
dc.contributor.referee3Lattes.fl_str_mv |
http://lattes.cnpq.br/2314816506621090 |
dc.contributor.authorLattes.fl_str_mv |
http://lattes.cnpq.br/4078649217197203 |
dc.contributor.author.fl_str_mv |
Azevedo, Camilla de Marchi Sanches |
contributor_str_mv |
Rangel , Ana Lúcia Carrinho Ayroza Rangel , Ana Lúcia Carrinho Ayroza Amorim , oão Paulo de Arruda Machado , Renato Assis |
dc.subject.por.fl_str_mv |
Fissura labial Fissura palatina Polimorfismo genético |
topic |
Fissura labial Fissura palatina Polimorfismo genético Cleft lip Cleft palate Genetic polymorphism CIENCIAS DA SAUDE::ODONTOLOGIA |
dc.subject.eng.fl_str_mv |
Cleft lip Cleft palate Genetic polymorphism |
dc.subject.cnpq.fl_str_mv |
CIENCIAS DA SAUDE::ODONTOLOGIA |
description |
Cleft lip and palate (CLP) are the most common craniofacial congenital malformations, which may be associated or not with syndromes. The etiology of the CLPs, although not fully elucidated, includes environmental, genetic factors and their interactions. In an attempt to clarify such a question, researches have investigated the genes associated with the syndromes with occurrence of cracks in their clinical spectrum, suggesting that the analysis of these same genes may extend to the group of non-syndromic oral clefts. This study aimed to determine the association of polymorphisms contained in the GRHL3 gene (Grainyhead-like 3) with susceptibility to the development of CL/P in non-syndromic individuals, since it plays an important role in the formation of the face, in addition to related to syndromic cases of oral clefts. For this purpose, a case-control approach was used with 833 cases of CL/PNS (non-syndromic cleft lip and/or palate), with 272 non-synchronous palatine fissure-CPNS, 242 non-sindromic cleft lip-CLNS and 319 non-synchronous cleft lip and palate- CLPNS and 294 controls, from 5 different regions of Brazil. The study was carried out from the collection of buccal cells obtained through mouthwash with sucrose solution 3%, in which, after DNA isolation, genomics ancestry tests were performed, as well as the genotyping of the SNPs rs 10903078, rs 41268753 and rs 4648975 in GRHL3, in order to investigate the existence of possible associations between these with the development of CL/PNS in a sample of the Brazilian population. There was predominance for European ancestry and a significant association between the rs10903078 SNP and CLNS was observed, however there were no associations between this and the other SNP when related to the other types of oral clefts. The logistic regression analysis showed that the homozygous CC genotype of rs10903078 was associated with CLNS (OR: 1.99; 95% CI: 0.83-1.78; p = 0.03), as well as the haplotype formed by the C-C alleles of the rs10903078 and rs41268753 SNPs presented an increased frequency in croup with CLNS (p = 0.04), although these associations were not significant after Bonferroni correction for multiple comparisons. |
publishDate |
2019 |
dc.date.accessioned.fl_str_mv |
2019-10-01T16:53:29Z |
dc.date.issued.fl_str_mv |
2019-03-25 |
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.citation.fl_str_mv |
AZEVEDO, Camilla de Marchi Sanches. Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira. 2019. 64 f. Dissertação( Mestrado em Odontologia) - Universidade Estadual do Oeste do Paraná, Cascavel, 2019. |
dc.identifier.uri.fl_str_mv |
http://tede.unioeste.br/handle/tede/4497 |
identifier_str_mv |
AZEVEDO, Camilla de Marchi Sanches. Associação de polimorfismos no gene GRHL3 com fissuras de lábio e/ou palato não-sindrômicas em uma população brasileira. 2019. 64 f. Dissertação( Mestrado em Odontologia) - Universidade Estadual do Oeste do Paraná, Cascavel, 2019. |
url |
http://tede.unioeste.br/handle/tede/4497 |
dc.language.iso.fl_str_mv |
por |
language |
por |
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dc.relation.confidence.fl_str_mv |
600 600 600 600 |
dc.relation.department.fl_str_mv |
1458059979463924370 |
dc.relation.cnpq.fl_str_mv |
-2070498469879244349 |
dc.relation.sponsorship.fl_str_mv |
623134973106312664 |
dc.rights.driver.fl_str_mv |
http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
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 Estadual do Oeste do Paraná Cascavel |
dc.publisher.program.fl_str_mv |
Programa de Pós-Graduação em Odontologia |
dc.publisher.initials.fl_str_mv |
UNIOESTE |
dc.publisher.country.fl_str_mv |
Brasil |
dc.publisher.department.fl_str_mv |
Centro de Ciências Biológicas e da Saúde |
publisher.none.fl_str_mv |
Universidade Estadual do Oeste do Paraná Cascavel |
dc.source.none.fl_str_mv |
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Biblioteca Digital de Teses e Dissertações do UNIOESTE |
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Biblioteca Digital de Teses e Dissertações do UNIOESTE - Universidade Estadual do Oeste do Paraná (UNIOESTE) |
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biblioteca.repositorio@unioeste.br |
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1801124562487738368 |