CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000100005 |
Resumo: | Lung cancer is considered an environment-related disease that develops as a consequence of exposure to mutagenic agents, namely those present in tobacco. The CYP1A1 gene codifies the phase I enzyme aryl hydrocarbon hydroxilase (AHH) belonging to the cytochrome P450 system that plays a major role in the bio-activation of tobacco procarcinogenes. Two CYP1A1 polymorphisms, m1 (T6235C transition) and m2 (A4889G transition), are associated with greater enzymatic activity and have been described as genetic susceptibility factors for lung cancer. The aim of this study was to verify if this association holds true in blood samples of 175 lung cancer patients and 217 non-cancer patients from Portugals midlands region. The samples were studied by restriction fragment length polymorphism (RFLP) assay. The allelic frequencies of the mutant alleles were 0.12 for allele C and 1.14 for allele G in the control population. The results were not statistically different from those alleles in the patient population. There was also no statistically significant difference in genotype distribution in lung cancer patients and controls even when combining high risk genotypes. In our control sample, as in other populations of different ethnic origin, both polymorphisms also seem to be in linkage disequilibrium. We conclude that in this sample of the Portuguese population, CYP1A1 m1 and m2 polymorphisms are too rare to be of clinical relevance, and do not seem to be associated with susceptibility to lung cancer. |
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CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancerLung cancersmokingcytochrome P450CYP1A1linkage disequilibriumLung cancer is considered an environment-related disease that develops as a consequence of exposure to mutagenic agents, namely those present in tobacco. The CYP1A1 gene codifies the phase I enzyme aryl hydrocarbon hydroxilase (AHH) belonging to the cytochrome P450 system that plays a major role in the bio-activation of tobacco procarcinogenes. Two CYP1A1 polymorphisms, m1 (T6235C transition) and m2 (A4889G transition), are associated with greater enzymatic activity and have been described as genetic susceptibility factors for lung cancer. The aim of this study was to verify if this association holds true in blood samples of 175 lung cancer patients and 217 non-cancer patients from Portugals midlands region. The samples were studied by restriction fragment length polymorphism (RFLP) assay. The allelic frequencies of the mutant alleles were 0.12 for allele C and 1.14 for allele G in the control population. The results were not statistically different from those alleles in the patient population. There was also no statistically significant difference in genotype distribution in lung cancer patients and controls even when combining high risk genotypes. In our control sample, as in other populations of different ethnic origin, both polymorphisms also seem to be in linkage disequilibrium. We conclude that in this sample of the Portuguese population, CYP1A1 m1 and m2 polymorphisms are too rare to be of clinical relevance, and do not seem to be associated with susceptibility to lung cancer.Sociedade Portuguesa de Pneumologia2010-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articletext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000100005Revista Portuguesa de Pneumologia v.16 n.1 2010reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000100005Mota,PaulaMoura,David SilvaVale,Maria GraçaCoimbra,HenriquetaCarvalho,LinaRegateiro,Fernandoinfo:eu-repo/semantics/openAccess2024-02-06T17:09:59Zoai:scielo:S0873-21592010000100005Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:21:42.711501Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer |
title |
CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer |
spellingShingle |
CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer Mota,Paula Lung cancer smoking cytochrome P450 CYP1A1 linkage disequilibrium |
title_short |
CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer |
title_full |
CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer |
title_fullStr |
CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer |
title_full_unstemmed |
CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer |
title_sort |
CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer |
author |
Mota,Paula |
author_facet |
Mota,Paula Moura,David Silva Vale,Maria Graça Coimbra,Henriqueta Carvalho,Lina Regateiro,Fernando |
author_role |
author |
author2 |
Moura,David Silva Vale,Maria Graça Coimbra,Henriqueta Carvalho,Lina Regateiro,Fernando |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Mota,Paula Moura,David Silva Vale,Maria Graça Coimbra,Henriqueta Carvalho,Lina Regateiro,Fernando |
dc.subject.por.fl_str_mv |
Lung cancer smoking cytochrome P450 CYP1A1 linkage disequilibrium |
topic |
Lung cancer smoking cytochrome P450 CYP1A1 linkage disequilibrium |
description |
Lung cancer is considered an environment-related disease that develops as a consequence of exposure to mutagenic agents, namely those present in tobacco. The CYP1A1 gene codifies the phase I enzyme aryl hydrocarbon hydroxilase (AHH) belonging to the cytochrome P450 system that plays a major role in the bio-activation of tobacco procarcinogenes. Two CYP1A1 polymorphisms, m1 (T6235C transition) and m2 (A4889G transition), are associated with greater enzymatic activity and have been described as genetic susceptibility factors for lung cancer. The aim of this study was to verify if this association holds true in blood samples of 175 lung cancer patients and 217 non-cancer patients from Portugals midlands region. The samples were studied by restriction fragment length polymorphism (RFLP) assay. The allelic frequencies of the mutant alleles were 0.12 for allele C and 1.14 for allele G in the control population. The results were not statistically different from those alleles in the patient population. There was also no statistically significant difference in genotype distribution in lung cancer patients and controls even when combining high risk genotypes. In our control sample, as in other populations of different ethnic origin, both polymorphisms also seem to be in linkage disequilibrium. We conclude that in this sample of the Portuguese population, CYP1A1 m1 and m2 polymorphisms are too rare to be of clinical relevance, and do not seem to be associated with susceptibility to lung cancer. |
publishDate |
2010 |
dc.date.none.fl_str_mv |
2010-01-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000100005 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000100005 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0873-21592010000100005 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Portuguesa de Pneumologia |
publisher.none.fl_str_mv |
Sociedade Portuguesa de Pneumologia |
dc.source.none.fl_str_mv |
Revista Portuguesa de Pneumologia v.16 n.1 2010 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
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1799137302285385728 |