Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial

Detalhes bibliográficos
Autor(a) principal: Lacerda, Kênia Alves Pereira
Data de Publicação: 2016
Tipo de documento: Tese
Idioma: por
Título da fonte: Repositório Institucional da UFG
dARK ID: ark:/38995/00130000096k2
Texto Completo: http://repositorio.bc.ufg.br/tede/handle/tede/6739
Resumo: Vitiligo is a skin disease that affects about 1% of the population worldwide. This disease does not cause physical incapacity, but due to its disfiguring appearance, the carriers can present psychological disturbances and impairment in the quality of life. The pathogenesis has not yet been clarified. Recently, evidence has suggested that some gene polymorphisms are associated with risk of developing vitiligo. This study aimed to investigate the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene (eNOS) in a group of patients with vitiligo and to compare the frequencies of the genotypes with a control group from the center-west region of Brazil, as well as assess the quality of life and the perception of stress In individuals with vitiligo and to compare the perception of stress with non-carriers. First study included 51 individuals with vitiligo and 50 controls. The whole blood samples were obtained by collection of peripheral venous blood, then DNA extraction was performed. The genotyping of the Glu298Asp polymorphism was performed by PCR-RFLP analysis. The research on the association of the polymorphism of the eNOS Glu298Asp gene with vitiligo did not present a significant difference in the distribution of genotypes and in the distribution of allelic frequencies between the carriers and the control group. However, in the analysis of the association between the genotypes and the variables location of vitiligo and skin color in the carriers, a higher proportion of TT genotypes was observed in individuals with 100% unisegmentar vitiligo and GT in patients with vitiligo located 68.3% (p = 0.028 ). Also, in the dominant model, a significantly higher proportion of GG genotype was observed in individuals of black color 34.5%, while a higher frequency of moderate-color individuals with GG + TT genotype was observed 54.5% (p = 0.035 ). In the second study, the sample consisted of 102 participants divided into two groups, with vitiligo and without vitiligo. We used the Dermatology Life Quality Index questionnaires and the Perceived Stress Scale. The mean quality of life score for patients with vitiligo was 4.7 ± 5.8, demonstrating a mild impairment in the patients. There was a significant association between quality of life and black skin color (β = 5.64, p <0.001), pattern of involvement of exposed vitiligo (β = 5.22, p <0.001) and perceived stress (β = 0,22 p = 0.033). The perceived stress assessed between the groups presented a mean of 20.7 ± 6.0 and 17.8 ± 7.0 for case and control, respectively. Vitiligo patients presented a high perception of stress when compared to the control group (β = 3.12, p = 0.022). The results pointed out a high perception of stress in vitiligo patients, evidencing that the fact of having vitiligo increases the level of stress. It is known that several factors, such as the genetic profile and ethnicity of the analyzed population, can influence the complex susceptibility to the disease, therefore, more studies are needed to elucidate the role of eNOS gene polymorphism in the pathogenesis of vitiligo.
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spelling Guillo, Lídia Andreuhttp://lattes.cnpq.br/3401436781775091Guillo, Lídia AndreuSantos, Wagner Gouvêa dosCarneiro, Lilian CarlaSanchez, Hugo MachadoBrasil, Virgínia Viscondehttp://lattes.cnpq.br/1371530552774194Lacerda, Kênia Alves Pereira2017-01-16T11:01:34Z2016-12-06LACERDA, Kenia Alves Pereira. Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial. 2016. 97 f. Tese (Doutorado em Ciências da Saúde) - Universidade Federal de Goiás, Goiânia, 2016.http://repositorio.bc.ufg.br/tede/handle/tede/6739ark:/38995/00130000096k2Vitiligo is a skin disease that affects about 1% of the population worldwide. This disease does not cause physical incapacity, but due to its disfiguring appearance, the carriers can present psychological disturbances and impairment in the quality of life. The pathogenesis has not yet been clarified. Recently, evidence has suggested that some gene polymorphisms are associated with risk of developing vitiligo. This study aimed to investigate the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene (eNOS) in a group of patients with vitiligo and to compare the frequencies of the genotypes with a control group from the center-west region of Brazil, as well as assess the quality of life and the perception of stress In individuals with vitiligo and to compare the perception of stress with non-carriers. First study included 51 individuals with vitiligo and 50 controls. The whole blood samples were obtained by collection of peripheral venous blood, then DNA extraction was performed. The genotyping of the Glu298Asp polymorphism was performed by PCR-RFLP analysis. The research on the association of the polymorphism of the eNOS Glu298Asp gene with vitiligo did not present a significant difference in the distribution of genotypes and in the distribution of allelic frequencies between the carriers and the control group. However, in the analysis of the association between the genotypes and the variables location of vitiligo and skin color in the carriers, a higher proportion of TT genotypes was observed in individuals with 100% unisegmentar vitiligo and GT in patients with vitiligo located 68.3% (p = 0.028 ). Also, in the dominant model, a significantly higher proportion of GG genotype was observed in individuals of black color 34.5%, while a higher frequency of moderate-color individuals with GG + TT genotype was observed 54.5% (p = 0.035 ). In the second study, the sample consisted of 102 participants divided into two groups, with vitiligo and without vitiligo. We used the Dermatology Life Quality Index questionnaires and the Perceived Stress Scale. The mean quality of life score for patients with vitiligo was 4.7 ± 5.8, demonstrating a mild impairment in the patients. There was a significant association between quality of life and black skin color (β = 5.64, p <0.001), pattern of involvement of exposed vitiligo (β = 5.22, p <0.001) and perceived stress (β = 0,22 p = 0.033). The perceived stress assessed between the groups presented a mean of 20.7 ± 6.0 and 17.8 ± 7.0 for case and control, respectively. Vitiligo patients presented a high perception of stress when compared to the control group (β = 3.12, p = 0.022). The results pointed out a high perception of stress in vitiligo patients, evidencing that the fact of having vitiligo increases the level of stress. It is known that several factors, such as the genetic profile and ethnicity of the analyzed population, can influence the complex susceptibility to the disease, therefore, more studies are needed to elucidate the role of eNOS gene polymorphism in the pathogenesis of vitiligo.O vitiligo é uma doença da pele que afeta cerca de 1% da população em todo o mundo. Esta doença não causa incapacidade física, mas devido à sua aparência desfigurante, os portadores podem apresentar distúrbios psicológicos e comprometimento na qualidade de vida. A patogênese ainda não foi esclarecida. Recentemente, evidências sugeriram que alguns polimorfismos de genes estão associados com risco de desenvolvimento do vitiligo. Este estudo objetivou investigar polimorfismo Glu298Asp do gene óxido nítrico sintase endotelial (eNOS) em um grupo de pacientes com vitiligo e comparar as frequências dos genótipos com um grupo controle da região centro oeste do Brasil, também avaliar a qualidade de vida e a percepção de estresse em indivíduos portadores de vitiligo e comparar a percepção de estresse com os não portadores. Primeiro estudo, incluiu 51 indivíduos com vitiligo e 50 pessoas controles. As amostras de sangue total foram obtidas por coleta de sangue venoso periférico, em seguida, foi realizado a extração do DNA. A genotipagem do polimorfismo Glu298Asp foi realizada por análise de PCR-RFLP. A investigação sobre a associação do polimorfismo do gene eNOS Glu298Asp com vitiligo, não apresentou diferença significativa na distribuição dos genótipos e na distribuição das frequências alélicas entre os portadores e grupo controle. Porém, na análise da associação entre os genótipos e as variáveis localização do vitiligo e cor da pele nos portadores, verificou maior proporção de genótipos TT em indivíduos com vitiligo unisegmentar 100% e GT em portadores com vitiligo localizado 68,3% (p = 0,028). Ainda, no modelo dominante, verificou-se uma proporção significativamente maior de genótipo GG em indivíduos da cor negra 34,5%, enquanto se verificou maior frequência de indivíduos da cor morena moderada com genótipo GG+TT 54,5% (p = 0,035). No segundo estudo, a amostra foi composta por 102 participantes divididos em dois grupos, com vitiligo e sem vitiligo. Utilizou-se os questionários Dermatology Life Quality Index e a Perceived Stress Scale. O escore médio de qualidade de vida para os portadores de vitiligo foi de 4,7 ± 5,8, demonstrando um comprometimento leve nos portadores. Verificou-se associação significativa entre qualidade de vida e cor da pele negra (β = 5,64; p < 0,001), padrão de envolvimento do vitiligo exposto (β = 5,22; p < 0,001) e estresse percebido (β = 0,22; p = 0,033). O estresse percebido avaliado entre os grupos apresentou média de 20,7±6,0 e 17,8±7,0 para caso e controle, respectivamente. Portadores do vitiligo apresentaram uma percepção elevada de estresse quando comparado ao grupo controle (β = 3,12; p = 0,022). Os resultados, apontaram uma percepção elevada de estresse nos portadores de vitiligo, evidenciando que o fato de possuir vitiligo aumenta o nível de estresse. Sabe-se que vários fatores, tais como o perfil genético e etnia da população analisada, podem influenciar no complexo susceptibilidade à doença, portanto, mais estudos são necessários para elucidar o papel do polimorfismo do gene da eNOS na patogênese do vitiligo.Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2017-01-13T12:38:13Z No. of bitstreams: 2 Tese - Kênia Alves Pereira Lacerda - 2016.pdf: 1930787 bytes, checksum: d2d35012cd70eaa30ae8e03b674c7055 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2017-01-16T11:01:34Z (GMT) No. of bitstreams: 2 Tese - Kênia Alves Pereira Lacerda - 2016.pdf: 1930787 bytes, checksum: d2d35012cd70eaa30ae8e03b674c7055 (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Made available in DSpace on 2017-01-16T11:01:34Z (GMT). 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dc.title.por.fl_str_mv Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial
dc.title.alternative.eng.fl_str_mv Vitiligo: stress, quality of life and Glu298Asp polymorphism in the endothelial nitric oxide synthase gene
title Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial
spellingShingle Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial
Lacerda, Kênia Alves Pereira
Vitiligo
Qualidade de vida
Polimorfismo
Gene
Glu298Asp
Vitiligo
Quality of life
Polymorphism
Gene
Glu298Asp
CIENCIAS BIOLOGICAS::BIOQUIMICA
title_short Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial
title_full Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial
title_fullStr Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial
title_full_unstemmed Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial
title_sort Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial
author Lacerda, Kênia Alves Pereira
author_facet Lacerda, Kênia Alves Pereira
author_role author
dc.contributor.advisor1.fl_str_mv Guillo, Lídia Andreu
dc.contributor.advisor1Lattes.fl_str_mv http://lattes.cnpq.br/3401436781775091
dc.contributor.referee1.fl_str_mv Guillo, Lídia Andreu
dc.contributor.referee2.fl_str_mv Santos, Wagner Gouvêa dos
dc.contributor.referee3.fl_str_mv Carneiro, Lilian Carla
dc.contributor.referee4.fl_str_mv Sanchez, Hugo Machado
dc.contributor.referee5.fl_str_mv Brasil, Virgínia Visconde
dc.contributor.authorLattes.fl_str_mv http://lattes.cnpq.br/1371530552774194
dc.contributor.author.fl_str_mv Lacerda, Kênia Alves Pereira
contributor_str_mv Guillo, Lídia Andreu
Guillo, Lídia Andreu
Santos, Wagner Gouvêa dos
Carneiro, Lilian Carla
Sanchez, Hugo Machado
Brasil, Virgínia Visconde
dc.subject.por.fl_str_mv Vitiligo
Qualidade de vida
Polimorfismo
Gene
Glu298Asp
topic Vitiligo
Qualidade de vida
Polimorfismo
Gene
Glu298Asp
Vitiligo
Quality of life
Polymorphism
Gene
Glu298Asp
CIENCIAS BIOLOGICAS::BIOQUIMICA
dc.subject.eng.fl_str_mv Vitiligo
Quality of life
Polymorphism
Gene
Glu298Asp
dc.subject.cnpq.fl_str_mv CIENCIAS BIOLOGICAS::BIOQUIMICA
description Vitiligo is a skin disease that affects about 1% of the population worldwide. This disease does not cause physical incapacity, but due to its disfiguring appearance, the carriers can present psychological disturbances and impairment in the quality of life. The pathogenesis has not yet been clarified. Recently, evidence has suggested that some gene polymorphisms are associated with risk of developing vitiligo. This study aimed to investigate the Glu298Asp polymorphism of the endothelial nitric oxide synthase gene (eNOS) in a group of patients with vitiligo and to compare the frequencies of the genotypes with a control group from the center-west region of Brazil, as well as assess the quality of life and the perception of stress In individuals with vitiligo and to compare the perception of stress with non-carriers. First study included 51 individuals with vitiligo and 50 controls. The whole blood samples were obtained by collection of peripheral venous blood, then DNA extraction was performed. The genotyping of the Glu298Asp polymorphism was performed by PCR-RFLP analysis. The research on the association of the polymorphism of the eNOS Glu298Asp gene with vitiligo did not present a significant difference in the distribution of genotypes and in the distribution of allelic frequencies between the carriers and the control group. However, in the analysis of the association between the genotypes and the variables location of vitiligo and skin color in the carriers, a higher proportion of TT genotypes was observed in individuals with 100% unisegmentar vitiligo and GT in patients with vitiligo located 68.3% (p = 0.028 ). Also, in the dominant model, a significantly higher proportion of GG genotype was observed in individuals of black color 34.5%, while a higher frequency of moderate-color individuals with GG + TT genotype was observed 54.5% (p = 0.035 ). In the second study, the sample consisted of 102 participants divided into two groups, with vitiligo and without vitiligo. We used the Dermatology Life Quality Index questionnaires and the Perceived Stress Scale. The mean quality of life score for patients with vitiligo was 4.7 ± 5.8, demonstrating a mild impairment in the patients. There was a significant association between quality of life and black skin color (β = 5.64, p <0.001), pattern of involvement of exposed vitiligo (β = 5.22, p <0.001) and perceived stress (β = 0,22 p = 0.033). The perceived stress assessed between the groups presented a mean of 20.7 ± 6.0 and 17.8 ± 7.0 for case and control, respectively. Vitiligo patients presented a high perception of stress when compared to the control group (β = 3.12, p = 0.022). The results pointed out a high perception of stress in vitiligo patients, evidencing that the fact of having vitiligo increases the level of stress. It is known that several factors, such as the genetic profile and ethnicity of the analyzed population, can influence the complex susceptibility to the disease, therefore, more studies are needed to elucidate the role of eNOS gene polymorphism in the pathogenesis of vitiligo.
publishDate 2016
dc.date.issued.fl_str_mv 2016-12-06
dc.date.accessioned.fl_str_mv 2017-01-16T11:01:34Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/doctoralThesis
format doctoralThesis
status_str publishedVersion
dc.identifier.citation.fl_str_mv LACERDA, Kenia Alves Pereira. Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial. 2016. 97 f. Tese (Doutorado em Ciências da Saúde) - Universidade Federal de Goiás, Goiânia, 2016.
dc.identifier.uri.fl_str_mv http://repositorio.bc.ufg.br/tede/handle/tede/6739
dc.identifier.dark.fl_str_mv ark:/38995/00130000096k2
identifier_str_mv LACERDA, Kenia Alves Pereira. Vitiligo: estresse, qualidade de vida e polimorfismo Glu298Asp no gene do óxido nítrico sintase endotelial. 2016. 97 f. Tese (Doutorado em Ciências da Saúde) - Universidade Federal de Goiás, Goiânia, 2016.
ark:/38995/00130000096k2
url http://repositorio.bc.ufg.br/tede/handle/tede/6739
dc.language.iso.fl_str_mv por
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