CYP1A1 m1 and m2 polymorphisms: genetic susceptibility to lung cancer

Detalhes bibliográficos
Autor(a) principal: Mota,Paula
Data de Publicação: 2010
Outros Autores: Moura,David Silva, Vale,Maria Graça, Coimbra,Henriqueta, Carvalho,Lina, Regateiro,Fernando
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 Portugal’s 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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spelling 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 Portugal’s 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 Portugal’s 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
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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
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
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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
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