Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , , , , , |
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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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 |
_version_ |
1752122382427881472 |