Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease
| Autor(a) principal: | |
|---|---|
| Data de Publicação: | 2023 |
| Outros Autores: | , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
| Texto Completo: | https://www.arca.fiocruz.br/handle/icict/61146 |
Resumo: | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Toxicologias e Análises Clínicas. Salvador, BA, Brasil / Fundação de Hematologia e Hemoterapia do Estado da Bahia Salvador. BA, Brasil. |
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Menezes, Joelma FigueiredoCarvalho, Magda Oliveira SeixasRocha, Larissa CarneiroSantos, Felipe Miranda dosAdorno, Elisângela VitóriaSouza, Cyntia Cajado deSantiago, Rayra PereiraGuarda, Caroline Conceição daOliveira, Rodrigo Mota deFigueiredo, Camylla Vilas BoasCarvalho, Suéllen PinheiroYahouédéhou, Sètondji Cocou Modeste AlexandreFiuza, Luciana MagalhãesAdanho, Corynne Stéphanie AhouefaPitanga, Thassila NogueiraLyra, Isa MenezesNascimento, Valma Maria LopesDutra, Alberto Augusto NoronhaGoncalves, Marilda Souza2023-11-09T13:30:35Z2023-11-09T13:30:35Z2023MENEZES, Joelma Figueiredo et al. Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease. Scientific Reports, v. 13, n. 7215, p. 1-10, 2023.2045-2322https://www.arca.fiocruz.br/handle/icict/6114610.1038/s41598-023-34396-1engNature ResearchParaoxonase 1PolimorfismosGene PON1Anemia falciformeParaoxonase 1PolymorphismsPON1 geneSickle cell diseaseArildialquilfosfataseAnemia falciformeRole of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell diseaseinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Toxicologias e Análises Clínicas. Salvador, BA, Brasil / Fundação de Hematologia e Hemoterapia do Estado da Bahia Salvador. BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / University College of London. UCL, London, UK.Fundação de Hematologia e Hemoterapia do Estado da Bahia Salvador. BA, Brasil.Universidade Federal da Bahia. Faculdade de Medicina. Salvador, BA, Brasil.Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Toxicologias e Análises Clínicas. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia do Estado da Bahia Salvador. BA, Brasil / Universidade Federal da Bahia. Hospital Universitário Professor Edgard Santos. Salvador, BA, Brasil.Fundação de Hematologia e Hemoterapia do Estado da Bahia Salvador. BA, Brasil.University College of London. UCL, London, UK.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Toxicologias e Análises Clínicas. Salvador, BA, Brasil.Sickle cell disease (SCD) patients often exhibit a dyslipidemic sub-phenotype. Paraoxonase 1 (PON 1) is a serum glycoprotein associated with the high-density lipoproteins cholesterol (HDL-C), and variability in PON1 activity depends on the PON1 genotypes. We investigated the influence of PON1c.192Q > R and PON1c.55L > M polymorphisms on PON1 activity and laboratory parameters and the association between PON1 activity and clinical manifestations in SCD patients. We recruited 350 individuals, including 154 SCD patients and 196 healthy volunteers, which comprised the control group. Laboratory parameters and molecular analyses were investigated from the participants' blood samples. We have found increased PON1 activity in SCD individuals compared to the control group. In addition, carriers of the variant genotype of each polymorphism presented lower PON1 activity. SCD individuals carrying the variant genotype of PON1c.55L > M polymorphism had lower platelet and reticulocyte counts, C-reactive protein, and aspartate aminotransferase levels; in addition to higher creatinine levels. SCD individuals carrying the variant genotype of PON1c.192Q > R polymorphism had lower triglyceride, VLDL-c, and indirect bilirubin levels. Furthermore, we observed an association between PON1 activity history of stroke and splenectomy. The present study confirmed the association between PON1c.192Q > R and PON1c.55L > M polymorphisms and PON1 activity, in addition to demonstrate their effects on markers of dislipidemia, hemolysis and inflammation, in SCD individuals. Moreover, data suggest PON1 activity as a potential biomarker related to stroke and splenectomy.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/61146/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALMenezes, Joelma F. - Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease.pdfMenezes, Joelma F. - Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease.pdfapplication/pdf1128314https://www.arca.fiocruz.br/bitstream/icict/61146/2/Menezes%2c%20Joelma%20F.%20-%20Role%20of%20paraoxonase%201%20activity%20and%20PON1%20gene%20polymorphisms%20in%20sickle%20cell%20disease.pdf849c58ee597a201aca9ad80ca07725feMD52icict/611462023-11-09 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| dc.title.en_US.fl_str_mv |
Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease |
| title |
Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease |
| spellingShingle |
Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease Menezes, Joelma Figueiredo Paraoxonase 1 Polimorfismos Gene PON1 Anemia falciforme Paraoxonase 1 Polymorphisms PON1 gene Sickle cell disease Arildialquilfosfatase Anemia falciforme |
| title_short |
Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease |
| title_full |
Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease |
| title_fullStr |
Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease |
| title_full_unstemmed |
Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease |
| title_sort |
Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease |
| author |
Menezes, Joelma Figueiredo |
| author_facet |
Menezes, Joelma Figueiredo Carvalho, Magda Oliveira Seixas Rocha, Larissa Carneiro Santos, Felipe Miranda dos Adorno, Elisângela Vitória Souza, Cyntia Cajado de Santiago, Rayra Pereira Guarda, Caroline Conceição da Oliveira, Rodrigo Mota de Figueiredo, Camylla Vilas Boas Carvalho, Suéllen Pinheiro Yahouédéhou, Sètondji Cocou Modeste Alexandre Fiuza, Luciana Magalhães Adanho, Corynne Stéphanie Ahouefa Pitanga, Thassila Nogueira Lyra, Isa Menezes Nascimento, Valma Maria Lopes Dutra, Alberto Augusto Noronha Goncalves, Marilda Souza |
| author_role |
author |
| author2 |
Carvalho, Magda Oliveira Seixas Rocha, Larissa Carneiro Santos, Felipe Miranda dos Adorno, Elisângela Vitória Souza, Cyntia Cajado de Santiago, Rayra Pereira Guarda, Caroline Conceição da Oliveira, Rodrigo Mota de Figueiredo, Camylla Vilas Boas Carvalho, Suéllen Pinheiro Yahouédéhou, Sètondji Cocou Modeste Alexandre Fiuza, Luciana Magalhães Adanho, Corynne Stéphanie Ahouefa Pitanga, Thassila Nogueira Lyra, Isa Menezes Nascimento, Valma Maria Lopes Dutra, Alberto Augusto Noronha Goncalves, Marilda Souza |
| author2_role |
author author author author author author author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Menezes, Joelma Figueiredo Carvalho, Magda Oliveira Seixas Rocha, Larissa Carneiro Santos, Felipe Miranda dos Adorno, Elisângela Vitória Souza, Cyntia Cajado de Santiago, Rayra Pereira Guarda, Caroline Conceição da Oliveira, Rodrigo Mota de Figueiredo, Camylla Vilas Boas Carvalho, Suéllen Pinheiro Yahouédéhou, Sètondji Cocou Modeste Alexandre Fiuza, Luciana Magalhães Adanho, Corynne Stéphanie Ahouefa Pitanga, Thassila Nogueira Lyra, Isa Menezes Nascimento, Valma Maria Lopes Dutra, Alberto Augusto Noronha Goncalves, Marilda Souza |
| dc.subject.other.en_US.fl_str_mv |
Paraoxonase 1 Polimorfismos Gene PON1 Anemia falciforme |
| topic |
Paraoxonase 1 Polimorfismos Gene PON1 Anemia falciforme Paraoxonase 1 Polymorphisms PON1 gene Sickle cell disease Arildialquilfosfatase Anemia falciforme |
| dc.subject.en.en_US.fl_str_mv |
Paraoxonase 1 Polymorphisms PON1 gene Sickle cell disease |
| dc.subject.decs.en_US.fl_str_mv |
Arildialquilfosfatase Anemia falciforme |
| description |
Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Investigação em Genética e Hematologia Translacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Faculdade de Farmácia. Departamento de Toxicologias e Análises Clínicas. Salvador, BA, Brasil / Fundação de Hematologia e Hemoterapia do Estado da Bahia Salvador. BA, Brasil. |
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2023 |
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2023-11-09T13:30:35Z |
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2023-11-09T13:30:35Z |
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2023 |
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MENEZES, Joelma Figueiredo et al. Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease. Scientific Reports, v. 13, n. 7215, p. 1-10, 2023. |
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https://www.arca.fiocruz.br/handle/icict/61146 |
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2045-2322 |
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10.1038/s41598-023-34396-1 |
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MENEZES, Joelma Figueiredo et al. Role of paraoxonase 1 activity and PON1 gene polymorphisms in sickle cell disease. Scientific Reports, v. 13, n. 7215, p. 1-10, 2023. 2045-2322 10.1038/s41598-023-34396-1 |
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Nature Research |
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