FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME

Detalhes bibliográficos
Autor(a) principal: THEOMÁRIO THEOTONIO AZEVEDO DA CRUZ
Data de Publicação: 2023
Tipo de documento: Dissertação
Idioma: por
Título da fonte: Repositório Institucional da UFMS
Texto Completo: https://repositorio.ufms.br/handle/123456789/6769
Resumo: Smoking is associated with increased morbidity in individuals with sickle cell disease (SCD). Genetic factors are known to influence smoking behavior in other populations but have not been investigated in individuals with SCD. Our aim was to assess the impact of smoking on clinical and laboratory findings in a large cohort of SCD and to identify genetic variations that may be associated with smoking in this population. Methods: The Brazil SCD cohort of the Recipient Epidemiology and Donor Evaluation Study (REDS-III) was established in 6 Brazilian cities to investigate clinical outcomes. Adult participants were interviewed and asked if they had smoked 100 cigarettes in their lifetime. Participants who answered “yes” were classified as smokers (active smokers and ex-smokers) and non-smokers. Clinical and laboratory data of 'smokers' and 'non-smokers' participants were compared. All participants were genotyped using a custom matrix and a Genome Wide Association Study (GWAS) was conducted to assess which single nucleotide variations (SNVs) were associated with smoking. Results: Of the 1,231 adults enrolled with smoking data, 332 (26.97%) were classified as 'Smokers' and 899 (73.03%) as 'Non-smokers'. Male gender, age ≥ 40 years, less education and hemoglobin above the 75th percentile were associated with having ever smoked. In GWAS, no SNP reached genome-wide significance (p < 5x10 -8). However, SNVs rs11087854 and at position 1059991 on chromosome 20, located in the AL110114.1 gene, and SNV rs701023 in the NCOR2 gene were nominally significant (p < 10-7), suggesting a possible association with smoking. Conclusion: Gender, age and education are related to smoking in patients with SCD and smoking is associated with higher levels of hemoglobin in this same group. Our analysis suggests that new loci are associated with smoking in patients with sickle cell anemia. Keywords: Sickle cell anemia, genetic variation, smoking, nicotine.
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spelling 2023-11-07T16:24:20Z2023-11-07T16:24:20Z2023https://repositorio.ufms.br/handle/123456789/6769Smoking is associated with increased morbidity in individuals with sickle cell disease (SCD). Genetic factors are known to influence smoking behavior in other populations but have not been investigated in individuals with SCD. Our aim was to assess the impact of smoking on clinical and laboratory findings in a large cohort of SCD and to identify genetic variations that may be associated with smoking in this population. Methods: The Brazil SCD cohort of the Recipient Epidemiology and Donor Evaluation Study (REDS-III) was established in 6 Brazilian cities to investigate clinical outcomes. Adult participants were interviewed and asked if they had smoked 100 cigarettes in their lifetime. Participants who answered “yes” were classified as smokers (active smokers and ex-smokers) and non-smokers. Clinical and laboratory data of 'smokers' and 'non-smokers' participants were compared. All participants were genotyped using a custom matrix and a Genome Wide Association Study (GWAS) was conducted to assess which single nucleotide variations (SNVs) were associated with smoking. Results: Of the 1,231 adults enrolled with smoking data, 332 (26.97%) were classified as 'Smokers' and 899 (73.03%) as 'Non-smokers'. Male gender, age ≥ 40 years, less education and hemoglobin above the 75th percentile were associated with having ever smoked. In GWAS, no SNP reached genome-wide significance (p < 5x10 -8). However, SNVs rs11087854 and at position 1059991 on chromosome 20, located in the AL110114.1 gene, and SNV rs701023 in the NCOR2 gene were nominally significant (p < 10-7), suggesting a possible association with smoking. Conclusion: Gender, age and education are related to smoking in patients with SCD and smoking is associated with higher levels of hemoglobin in this same group. Our analysis suggests that new loci are associated with smoking in patients with sickle cell anemia. Keywords: Sickle cell anemia, genetic variation, smoking, nicotine.O tabagismo está associado ao aumento da morbidade em indivíduos com doença falciforme (DF). Fatores genéticos são conhecidos por influenciar o comportamento do tabagismo em outras populações, mas não foram investigados em indivíduos com DF. Objetivo: avaliar o impacto do tabagismo nos achados clínicos e laboratoriais em uma grande coorte de DF e identificar as variações genéticas que podem estar associadas ao tabagismo nessa população. Métodos: A coorte Brasil de DF do Estudo de Epidemiologia do Receptor e Avaliação de Doadores (REDS-III) foi estabelecida em 6 cidades brasileiras, para investigar os resultados clínicos. Os participantes adultos foram entrevistados e perguntados se já haviam fumado 100 cigarros na vida. Os participantes com resposta “sim”, foram classificados como Fumantes (fumante ativo e ex-fumante) e Não Fumantes. Os dados clínicos e laboratoriais dos participantes ‘Fumantes’ e ‘Não fumantes’ foram comparados. Todos os participantes foram genotipados usando uma matriz personalizada e um Genome Wide Association Study (GWAS) foi conduzido para avaliar quais variações de nucleotídeo único (SNVs) estavam associadas ao tabagismo. Resultados: dos 1.231 adultos inscritos com dados do tabagismo, 332 (26,97%) foram classificados como 'Fumantes' e 899 (73,03%) como 'Não fumantes'. Sexo masculino, idade ≥ 40 anos, menor escolaridade e hemoglobina acima do percentil 75 associaram-se à condição de fumante alguma vez. No GWAS, nenhum SNP atingiu significância em todo o genoma (p < 5x10 -8). No entanto, SNVs rs11087854 e na posição 1059991 no cromossomo 20, localizado no gene AL110114.1 e SNV rs701023 no gene NCOR2 foram nominalmente significantes (p <10-7), sugerindo uma possível associação com tabagismo. Conclusão: sexo, idade e escolaridade estão relacionados ao tabagismo de pacientes com DF e o tabagismo está associado a níveis mais elevados de hemoglobina neste mesmo grupo. A análise sugere que novos loci estão associados ao tabagismo em pacientes com anemia falciforme. Palavras-chave: Anemia falciforme, variação genética, tabagismo, nicotina.Fundação Universidade Federal de Mato Grosso do SulUFMSBrasiltabagismo, anemia falciforme, exames clínicos, exames laboratoriais, exames genéticosFATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORMEinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisRodrigo Juliano OliveiraTHEOMÁRIO THEOTONIO AZEVEDO DA CRUZinfo:eu-repo/semantics/openAccessporreponame:Repositório Institucional da UFMSinstname:Universidade Federal de Mato Grosso do Sul (UFMS)instacron:UFMSORIGINALDissertação_Theomário Theotonio Azevedo da Cruz_.pdfDissertação_Theomário Theotonio Azevedo da Cruz_.pdfapplication/pdf1169329https://repositorio.ufms.br/bitstream/123456789/6769/-1/Disserta%c3%a7%c3%a3o_Theom%c3%a1rio%20Theotonio%20Azevedo%20da%20Cruz_.pdff6a3703e68355591a814ffc8fd2a5a5cMD5-1123456789/67692023-11-07 12:24:21.485oai:repositorio.ufms.br:123456789/6769Repositório InstitucionalPUBhttps://repositorio.ufms.br/oai/requestri.prograd@ufms.bropendoar:21242023-11-07T16:24:21Repositório Institucional da UFMS - Universidade Federal de Mato Grosso do Sul (UFMS)false
dc.title.pt_BR.fl_str_mv FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME
title FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME
spellingShingle FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME
THEOMÁRIO THEOTONIO AZEVEDO DA CRUZ
tabagismo, anemia falciforme, exames clínicos, exames laboratoriais, exames genéticos
title_short FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME
title_full FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME
title_fullStr FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME
title_full_unstemmed FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME
title_sort FATORES CLÍNICOS, LABORATORIAIS E GENÉTICOS ASSOCIADOS AO TABAGISMO EM UMA COORTE BRASILEIRA DE DOENÇA FALCIFORME
author THEOMÁRIO THEOTONIO AZEVEDO DA CRUZ
author_facet THEOMÁRIO THEOTONIO AZEVEDO DA CRUZ
author_role author
dc.contributor.advisor1.fl_str_mv Rodrigo Juliano Oliveira
dc.contributor.author.fl_str_mv THEOMÁRIO THEOTONIO AZEVEDO DA CRUZ
contributor_str_mv Rodrigo Juliano Oliveira
dc.subject.por.fl_str_mv tabagismo, anemia falciforme, exames clínicos, exames laboratoriais, exames genéticos
topic tabagismo, anemia falciforme, exames clínicos, exames laboratoriais, exames genéticos
description Smoking is associated with increased morbidity in individuals with sickle cell disease (SCD). Genetic factors are known to influence smoking behavior in other populations but have not been investigated in individuals with SCD. Our aim was to assess the impact of smoking on clinical and laboratory findings in a large cohort of SCD and to identify genetic variations that may be associated with smoking in this population. Methods: The Brazil SCD cohort of the Recipient Epidemiology and Donor Evaluation Study (REDS-III) was established in 6 Brazilian cities to investigate clinical outcomes. Adult participants were interviewed and asked if they had smoked 100 cigarettes in their lifetime. Participants who answered “yes” were classified as smokers (active smokers and ex-smokers) and non-smokers. Clinical and laboratory data of 'smokers' and 'non-smokers' participants were compared. All participants were genotyped using a custom matrix and a Genome Wide Association Study (GWAS) was conducted to assess which single nucleotide variations (SNVs) were associated with smoking. Results: Of the 1,231 adults enrolled with smoking data, 332 (26.97%) were classified as 'Smokers' and 899 (73.03%) as 'Non-smokers'. Male gender, age ≥ 40 years, less education and hemoglobin above the 75th percentile were associated with having ever smoked. In GWAS, no SNP reached genome-wide significance (p < 5x10 -8). However, SNVs rs11087854 and at position 1059991 on chromosome 20, located in the AL110114.1 gene, and SNV rs701023 in the NCOR2 gene were nominally significant (p < 10-7), suggesting a possible association with smoking. Conclusion: Gender, age and education are related to smoking in patients with SCD and smoking is associated with higher levels of hemoglobin in this same group. Our analysis suggests that new loci are associated with smoking in patients with sickle cell anemia. Keywords: Sickle cell anemia, genetic variation, smoking, nicotine.
publishDate 2023
dc.date.accessioned.fl_str_mv 2023-11-07T16:24:20Z
dc.date.available.fl_str_mv 2023-11-07T16:24:20Z
dc.date.issued.fl_str_mv 2023
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