Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation

Autores
Abou Assali, Lubna; Gordillo, Diego Miguel; Cerbino, Gabriela Nora; Varela, Laura Sabina; Batlle, Alcira Maria del C.; Parera, Victoria Estela; Rossetti, Maria Victoria
Año de publicación
2019
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Abstract: Objective: The manifestation of Acute Intermittent Porphyria (AIP) requires many factors. In situations of high demand of heme, initial enzyme of the pathway in parallel to P450 cytochrome genes (CYPs) is induced in response to drugs. It was suggested that variants in CYP2C9, would play a role in AIP manifestation, according to the theory of Thunell.S at 2006Acute. Method: It was studied genotype and allele frequency of some SNPs in a control and AIP patients groups, then was analyzed the relation of those found variants with heme precursors. We amplified by PCR a fragment covering from intron 1 to intron 3. All obtained data were analyzed by Statistical programs VccSTAT© and InfoSTAT©. Results: We detected 4 different polymorphisms: two missense variants in exon 3 g.8633 C Fil: Abou Assali, Lubna. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Gordillo, Diego Miguel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Varela, Laura Sabina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Materia
AIP
CYP2C9
manifestation
SNPs
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/130953
Acceder
id CONICETDig_ace4ee356c07144c336e4fbae6412f8d
oai_identifier_str oai:ri.conicet.gov.ar:11336/130953
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestationAbou Assali, LubnaGordillo, Diego MiguelCerbino, Gabriela NoraVarela, Laura SabinaBatlle, Alcira Maria del C.Parera, Victoria EstelaRossetti, Maria VictoriaAIPCYP2C9manifestationSNPshttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Abstract: Objective: The manifestation of Acute Intermittent Porphyria (AIP) requires many factors. In situations of high demand of heme, initial enzyme of the pathway in parallel to P450 cytochrome genes (CYPs) is induced in response to drugs. It was suggested that variants in CYP2C9, would play a role in AIP manifestation, according to the theory of Thunell.S at 2006Acute. Method: It was studied genotype and allele frequency of some SNPs in a control and AIP patients groups, then was analyzed the relation of those found variants with heme precursors. We amplified by PCR a fragment covering from intron 1 to intron 3. All obtained data were analyzed by Statistical programs VccSTAT© and InfoSTAT©. Results: We detected 4 different polymorphisms: two missense variants in exon 3 g.8633 C <T and g.8652 G <A, and two SNPs no translated g.8187 G <C and g.8436 T <C in introns 1 and 2, respectively. And there were not significant frequencies in all studied groups. Conclusions: The presence of genotypes G/C-C/T was in major frequency in AIP men, which also have high levels of ALA and PBG comparing with women. Worldwide, this study clearly demonstrated for the first time that AIP men with G/CC/T variants could have a high possibility to trigger the disease due to porphyrinogenic drug consumption, as a mainly reason to development the disease in male patients.Fil: Abou Assali, Lubna. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Gordillo, Diego Miguel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Varela, Laura Sabina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaFil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; ArgentinaMNK Publication2019-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/130953Abou Assali, Lubna; Gordillo, Diego Miguel; Cerbino, Gabriela Nora; Varela, Laura Sabina; Batlle, Alcira Maria del C.; et al.; Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation; MNK Publication; International Journal of Latest Research in Science and Technology; 8; 7-2019; 1-62278-5299CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.mnkjournals.com/journal/ijlrst/pdf/Volume_8_3_2019/10973.pdfinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:02:01Zoai:ri.conicet.gov.ar:11336/130953instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:02:02.08CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
title Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
spellingShingle Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
Abou Assali, Lubna
AIP
CYP2C9
manifestation
SNPs
title_short Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
title_full Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
title_fullStr Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
title_full_unstemmed Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
title_sort Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation
dc.creator.none.fl_str_mv Abou Assali, Lubna
Gordillo, Diego Miguel
Cerbino, Gabriela Nora
Varela, Laura Sabina
Batlle, Alcira Maria del C.
Parera, Victoria Estela
Rossetti, Maria Victoria
author Abou Assali, Lubna
author_facet Abou Assali, Lubna
Gordillo, Diego Miguel
Cerbino, Gabriela Nora
Varela, Laura Sabina
Batlle, Alcira Maria del C.
Parera, Victoria Estela
Rossetti, Maria Victoria
author_role author
author2 Gordillo, Diego Miguel
Cerbino, Gabriela Nora
Varela, Laura Sabina
Batlle, Alcira Maria del C.
Parera, Victoria Estela
Rossetti, Maria Victoria
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv AIP
CYP2C9
manifestation
SNPs
topic AIP
CYP2C9
manifestation
SNPs
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.3
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Abstract: Objective: The manifestation of Acute Intermittent Porphyria (AIP) requires many factors. In situations of high demand of heme, initial enzyme of the pathway in parallel to P450 cytochrome genes (CYPs) is induced in response to drugs. It was suggested that variants in CYP2C9, would play a role in AIP manifestation, according to the theory of Thunell.S at 2006Acute. Method: It was studied genotype and allele frequency of some SNPs in a control and AIP patients groups, then was analyzed the relation of those found variants with heme precursors. We amplified by PCR a fragment covering from intron 1 to intron 3. All obtained data were analyzed by Statistical programs VccSTAT© and InfoSTAT©. Results: We detected 4 different polymorphisms: two missense variants in exon 3 g.8633 C <T and g.8652 G <A, and two SNPs no translated g.8187 G <C and g.8436 T <C in introns 1 and 2, respectively. And there were not significant frequencies in all studied groups. Conclusions: The presence of genotypes G/C-C/T was in major frequency in AIP men, which also have high levels of ALA and PBG comparing with women. Worldwide, this study clearly demonstrated for the first time that AIP men with G/CC/T variants could have a high possibility to trigger the disease due to porphyrinogenic drug consumption, as a mainly reason to development the disease in male patients.
Fil: Abou Assali, Lubna. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Gordillo, Diego Miguel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Cerbino, Gabriela Nora. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Varela, Laura Sabina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Batlle, Alcira Maria del C.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Parera, Victoria Estela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
Fil: Rossetti, Maria Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Centro de Investigaciones sobre Porfirinas y Porfirias. Universidad de Buenos Aires. Centro de Investigaciones sobre Porfirinas y Porfirias; Argentina
description Abstract: Objective: The manifestation of Acute Intermittent Porphyria (AIP) requires many factors. In situations of high demand of heme, initial enzyme of the pathway in parallel to P450 cytochrome genes (CYPs) is induced in response to drugs. It was suggested that variants in CYP2C9, would play a role in AIP manifestation, according to the theory of Thunell.S at 2006Acute. Method: It was studied genotype and allele frequency of some SNPs in a control and AIP patients groups, then was analyzed the relation of those found variants with heme precursors. We amplified by PCR a fragment covering from intron 1 to intron 3. All obtained data were analyzed by Statistical programs VccSTAT© and InfoSTAT©. Results: We detected 4 different polymorphisms: two missense variants in exon 3 g.8633 C <T and g.8652 G <A, and two SNPs no translated g.8187 G <C and g.8436 T <C in introns 1 and 2, respectively. And there were not significant frequencies in all studied groups. Conclusions: The presence of genotypes G/C-C/T was in major frequency in AIP men, which also have high levels of ALA and PBG comparing with women. Worldwide, this study clearly demonstrated for the first time that AIP men with G/CC/T variants could have a high possibility to trigger the disease due to porphyrinogenic drug consumption, as a mainly reason to development the disease in male patients.
publishDate 2019
dc.date.none.fl_str_mv 2019-07
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/130953
Abou Assali, Lubna; Gordillo, Diego Miguel; Cerbino, Gabriela Nora; Varela, Laura Sabina; Batlle, Alcira Maria del C.; et al.; Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation; MNK Publication; International Journal of Latest Research in Science and Technology; 8; 7-2019; 1-6
2278-5299
CONICET Digital
CONICET
url http://hdl.handle.net/11336/130953
identifier_str_mv Abou Assali, Lubna; Gordillo, Diego Miguel; Cerbino, Gabriela Nora; Varela, Laura Sabina; Batlle, Alcira Maria del C.; et al.; Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation; MNK Publication; International Journal of Latest Research in Science and Technology; 8; 7-2019; 1-6
2278-5299
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.mnkjournals.com/journal/ijlrst/pdf/Volume_8_3_2019/10973.pdf
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv MNK Publication
publisher.none.fl_str_mv MNK Publication
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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