Data/hora: 02/06/2024 14:51:13

Provedor de dados: | Genetics and Molecular Biology
País: | Brazil
Título: | Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD)
Autores: | Denden,Sabri; Khelil,Amel Haj; Knani,Jalel; Lakhdar,Ramzi; Perrin,Pascale; Lefranc,Gérard; Chibani,Jemni Ben.
Data: | 2010-01-01
Ano: | 2010
Palavras-chave: | Alpha-1 antitrypsin; SERPINA1 polymorphisms; COPD; Emphysema; Lung function.
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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000100006
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47572009005000107
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.33 n.1 2010
Fonte: | info:eu-repo/semantics/openAccess