Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)

Detalhes bibliográficos
Autor(a) principal: Denden,Sabri
Data de Publicação: 2010
Outros Autores: Khelil,Amel Haj, Knani,Jalel, Lakhdar,Ramzi, Perrin,Pascale, Lefranc,Gérard, Chibani,Jemni Ben
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100006
Resumo: Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val), PiM2 (Arg101His), PiM3 (Glu376Asp), PiS (Glu264Val) and PiZ (Glu342Lys) SERPINA1 alleles in 100 COPD patients and 200 healthy controls. No significant differences were observed in allele frequencies between COPD patients and controls, neither did haplotype analysis show significant differences between the two groups. A cross-sectional study revealed no significant relationship between common SERPINA1 polymorphisms (PiM1, PiM2, PiM3) and the emphysematous type of COPD. In addition, FEV1 annual decline, determined during a two-year follow up period, revealed no difference among carriers of the tested polymorphisms.
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spelling Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)alpha-1 antitrypsinSERPINA1 polymorphismsCOPDemphysemalung functionAlpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val), PiM2 (Arg101His), PiM3 (Glu376Asp), PiS (Glu264Val) and PiZ (Glu342Lys) SERPINA1 alleles in 100 COPD patients and 200 healthy controls. No significant differences were observed in allele frequencies between COPD patients and controls, neither did haplotype analysis show significant differences between the two groups. A cross-sectional study revealed no significant relationship between common SERPINA1 polymorphisms (PiM1, PiM2, PiM3) and the emphysematous type of COPD. In addition, FEV1 annual decline, determined during a two-year follow up period, revealed no difference among carriers of the tested polymorphisms.Sociedade Brasileira de Genética2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100006Genetics and Molecular Biology v.33 n.1 2010reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572009005000107info:eu-repo/semantics/openAccessDenden,SabriKhelil,Amel HajKnani,JalelLakhdar,RamziPerrin,PascaleLefranc,GérardChibani,Jemni Beneng2010-02-12T00:00:00Zoai:scielo:S1415-47572010000100006Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2010-02-12T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
title Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
spellingShingle Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
Denden,Sabri
alpha-1 antitrypsin
SERPINA1 polymorphisms
COPD
emphysema
lung function
title_short Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
title_full Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
title_fullStr Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
title_full_unstemmed Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
title_sort Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
author Denden,Sabri
author_facet Denden,Sabri
Khelil,Amel Haj
Knani,Jalel
Lakhdar,Ramzi
Perrin,Pascale
Lefranc,Gérard
Chibani,Jemni Ben
author_role author
author2 Khelil,Amel Haj
Knani,Jalel
Lakhdar,Ramzi
Perrin,Pascale
Lefranc,Gérard
Chibani,Jemni Ben
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Denden,Sabri
Khelil,Amel Haj
Knani,Jalel
Lakhdar,Ramzi
Perrin,Pascale
Lefranc,Gérard
Chibani,Jemni Ben
dc.subject.por.fl_str_mv alpha-1 antitrypsin
SERPINA1 polymorphisms
COPD
emphysema
lung function
topic alpha-1 antitrypsin
SERPINA1 polymorphisms
COPD
emphysema
lung function
description Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We investigated PiM1 (Ala213Val), PiM2 (Arg101His), PiM3 (Glu376Asp), PiS (Glu264Val) and PiZ (Glu342Lys) SERPINA1 alleles in 100 COPD patients and 200 healthy controls. No significant differences were observed in allele frequencies between COPD patients and controls, neither did haplotype analysis show significant differences between the two groups. A cross-sectional study revealed no significant relationship between common SERPINA1 polymorphisms (PiM1, PiM2, PiM3) and the emphysematous type of COPD. In addition, FEV1 annual decline, determined during a two-year follow up period, revealed no difference among carriers of the tested polymorphisms.
publishDate 2010
dc.date.none.fl_str_mv 2010-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100006
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100006
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572009005000107
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 Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.33 n.1 2010
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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