Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda

Autores
Gordillo, Diego Miguel; Abou Assali, Lubna; 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: Porphyria Cutanea Tarda results from decrease hepatic uroporphyrinogen decarboxylase activity. There are twoprincipal types: sporadic or acquired and familial or hereditary Porphyria Cutanea Tarda. Hereditary Porphyria Cutanea Tarda is observed in 25-30% of the patients in whom one allele of the uroporphyrinogen decarboxylase gene reduces the enzyme activity by approximately 50% in all tissues. There are experimental evidences that suggest a possible relationship between CYP1A1, CYP1A2 andPorphyria Cutanea Tarda symptomatology development but the results described in dif erent populations are very conflictive.The aim ofthis work is provide additional evidences about the participation of the CYP system on the manifestation of this disease. Subjets/Methods: We analyse the polymorphisms already described in these CYPs isoforms in 112 Porphyria Cutanea Tarda Argentinianpatients and 89 controls. Of these 64 were used for haplotype analysis. The polymorphisms were detected by RFLP-PCR or sequencing. Results: For CYP1A2*1F polymorphism C allele (wt) was exceptionally the less frequent while the polymorphic A allele, with an increasedtranscriptional activity, resulted to be the risk allele. For CYP1A1 m4 polymorphism, for which are not previous reports about this effect, our results indicated that the A variant would be arisk factor to develop the disease. For m2 polymorphism we obtained contradictory results depending on the groups compared. The risk haplotype calculated with the snpSTATs was m4-m2-m1-1A2: C-G-C-C. Conclusions: These results indicated that, among other factors, these polymorphisms would be related with Porphyria Cutanea Tardadevelopment.
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: 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: 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
PORPHYRIA CUTANEA TARDA (PCT)
CYP1A1, CYP1A2
POLYMORPHISMS
PCT DEVELOPMENT
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:11336/131024
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/131024
network_acronym_str CONICETDig
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network_name_str CONICET Digital (CONICET)
spelling Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tardaGordillo, Diego MiguelAbou Assali, LubnaCerbino, Gabriela NoraVarela, Laura SabinaBatlle, Alcira Maria del C.Parera, Victoria EstelaRossetti, Maria VictoriaPORPHYRIA CUTANEA TARDA (PCT)CYP1A1, CYP1A2POLYMORPHISMSPCT DEVELOPMENThttps://purl.org/becyt/ford/3.3https://purl.org/becyt/ford/3Abstract : Objective: Porphyria Cutanea Tarda results from decrease hepatic uroporphyrinogen decarboxylase activity. There are twoprincipal types: sporadic or acquired and familial or hereditary Porphyria Cutanea Tarda. Hereditary Porphyria Cutanea Tarda is observed in 25-30% of the patients in whom one allele of the uroporphyrinogen decarboxylase gene reduces the enzyme activity by approximately 50% in all tissues. There are experimental evidences that suggest a possible relationship between CYP1A1, CYP1A2 andPorphyria Cutanea Tarda symptomatology development but the results described in dif erent populations are very conflictive.The aim ofthis work is provide additional evidences about the participation of the CYP system on the manifestation of this disease. Subjets/Methods: We analyse the polymorphisms already described in these CYPs isoforms in 112 Porphyria Cutanea Tarda Argentinianpatients and 89 controls. Of these 64 were used for haplotype analysis. The polymorphisms were detected by RFLP-PCR or sequencing. Results: For CYP1A2*1F polymorphism C allele (wt) was exceptionally the less frequent while the polymorphic A allele, with an increasedtranscriptional activity, resulted to be the risk allele. For CYP1A1 m4 polymorphism, for which are not previous reports about this effect, our results indicated that the A variant would be arisk factor to develop the disease. For m2 polymorphism we obtained contradictory results depending on the groups compared. The risk haplotype calculated with the snpSTATs was m4-m2-m1-1A2: C-G-C-C. Conclusions: These results indicated that, among other factors, these polymorphisms would be related with Porphyria Cutanea Tardadevelopment.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; ArgentinaFil: 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: 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 publication2019-02info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/131024Gordillo, Diego Miguel; Abou Assali, Lubna; Cerbino, Gabriela Nora; Varela, Laura Sabina; Batlle, Alcira Maria del C.; et al.; Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda; MNK publication; International Journal of Latest Research in Science and Technology; 7; 2-2019; 12-172278-5299CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.mnkjournals.com/journal/ijlrst/pdf/Volume_7_6_2018/10961.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 Técnicas2025-09-03T09:57:41Zoai:ri.conicet.gov.ar:11336/131024instacron: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:34982025-09-03 09:57:41.344CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
title Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
spellingShingle Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
Gordillo, Diego Miguel
PORPHYRIA CUTANEA TARDA (PCT)
CYP1A1, CYP1A2
POLYMORPHISMS
PCT DEVELOPMENT
title_short Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
title_full Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
title_fullStr Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
title_full_unstemmed Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
title_sort Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda
dc.creator.none.fl_str_mv Gordillo, Diego Miguel
Abou Assali, Lubna
Cerbino, Gabriela Nora
Varela, Laura Sabina
Batlle, Alcira Maria del C.
Parera, Victoria Estela
Rossetti, Maria Victoria
author Gordillo, Diego Miguel
author_facet Gordillo, Diego Miguel
Abou Assali, Lubna
Cerbino, Gabriela Nora
Varela, Laura Sabina
Batlle, Alcira Maria del C.
Parera, Victoria Estela
Rossetti, Maria Victoria
author_role author
author2 Abou Assali, Lubna
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 PORPHYRIA CUTANEA TARDA (PCT)
CYP1A1, CYP1A2
POLYMORPHISMS
PCT DEVELOPMENT
topic PORPHYRIA CUTANEA TARDA (PCT)
CYP1A1, CYP1A2
POLYMORPHISMS
PCT DEVELOPMENT
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: Porphyria Cutanea Tarda results from decrease hepatic uroporphyrinogen decarboxylase activity. There are twoprincipal types: sporadic or acquired and familial or hereditary Porphyria Cutanea Tarda. Hereditary Porphyria Cutanea Tarda is observed in 25-30% of the patients in whom one allele of the uroporphyrinogen decarboxylase gene reduces the enzyme activity by approximately 50% in all tissues. There are experimental evidences that suggest a possible relationship between CYP1A1, CYP1A2 andPorphyria Cutanea Tarda symptomatology development but the results described in dif erent populations are very conflictive.The aim ofthis work is provide additional evidences about the participation of the CYP system on the manifestation of this disease. Subjets/Methods: We analyse the polymorphisms already described in these CYPs isoforms in 112 Porphyria Cutanea Tarda Argentinianpatients and 89 controls. Of these 64 were used for haplotype analysis. The polymorphisms were detected by RFLP-PCR or sequencing. Results: For CYP1A2*1F polymorphism C allele (wt) was exceptionally the less frequent while the polymorphic A allele, with an increasedtranscriptional activity, resulted to be the risk allele. For CYP1A1 m4 polymorphism, for which are not previous reports about this effect, our results indicated that the A variant would be arisk factor to develop the disease. For m2 polymorphism we obtained contradictory results depending on the groups compared. The risk haplotype calculated with the snpSTATs was m4-m2-m1-1A2: C-G-C-C. Conclusions: These results indicated that, among other factors, these polymorphisms would be related with Porphyria Cutanea Tardadevelopment.
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: 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: 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: Porphyria Cutanea Tarda results from decrease hepatic uroporphyrinogen decarboxylase activity. There are twoprincipal types: sporadic or acquired and familial or hereditary Porphyria Cutanea Tarda. Hereditary Porphyria Cutanea Tarda is observed in 25-30% of the patients in whom one allele of the uroporphyrinogen decarboxylase gene reduces the enzyme activity by approximately 50% in all tissues. There are experimental evidences that suggest a possible relationship between CYP1A1, CYP1A2 andPorphyria Cutanea Tarda symptomatology development but the results described in dif erent populations are very conflictive.The aim ofthis work is provide additional evidences about the participation of the CYP system on the manifestation of this disease. Subjets/Methods: We analyse the polymorphisms already described in these CYPs isoforms in 112 Porphyria Cutanea Tarda Argentinianpatients and 89 controls. Of these 64 were used for haplotype analysis. The polymorphisms were detected by RFLP-PCR or sequencing. Results: For CYP1A2*1F polymorphism C allele (wt) was exceptionally the less frequent while the polymorphic A allele, with an increasedtranscriptional activity, resulted to be the risk allele. For CYP1A1 m4 polymorphism, for which are not previous reports about this effect, our results indicated that the A variant would be arisk factor to develop the disease. For m2 polymorphism we obtained contradictory results depending on the groups compared. The risk haplotype calculated with the snpSTATs was m4-m2-m1-1A2: C-G-C-C. Conclusions: These results indicated that, among other factors, these polymorphisms would be related with Porphyria Cutanea Tardadevelopment.
publishDate 2019
dc.date.none.fl_str_mv 2019-02
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/11336/131024
Gordillo, Diego Miguel; Abou Assali, Lubna; Cerbino, Gabriela Nora; Varela, Laura Sabina; Batlle, Alcira Maria del C.; et al.; Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda; MNK publication; International Journal of Latest Research in Science and Technology; 7; 2-2019; 12-17
2278-5299
CONICET Digital
CONICET
url http://hdl.handle.net/11336/131024
identifier_str_mv Gordillo, Diego Miguel; Abou Assali, Lubna; Cerbino, Gabriela Nora; Varela, Laura Sabina; Batlle, Alcira Maria del C.; et al.; Haplotype analysis of single nucleotide polymorphisms of cyp1a1 and cyp1a2 and its relationship with the development of porphyria cutanea tarda; MNK publication; International Journal of Latest Research in Science and Technology; 7; 2-2019; 12-17
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_7_6_2018/10961.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
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dc.publisher.none.fl_str_mv MNK publication
publisher.none.fl_str_mv MNK publication
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reponame_str CONICET Digital (CONICET)
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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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