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

被引：13

作者：

Denden, Sabri ^{[1
]}

Khelil, Amel Haj ^{[1
]}

Knani, Jalel ^{[2
]}

Lakhdar, Ramzi ^{[1
]}

Perrin, Pascale ^{[3
]}

Lefranc, Gerard ^{[4
]}

Ben Chibani, Jemni ^{[1
]}

机构：

[1] Fac Pharm, Biochem & Mol Biol Lab, Monastir, Tunisia

[2] CHU Tahar Sfar, Dept Pulmonol, Mahdia, Tunisia

[3] Univ Montpellier 2, Inst Evolut Sci, F-34095 Montpellier 5, France

[4] Univ Montpellier 2, Inst Human Genet, F-34095 Montpellier, France

来源：

GENETICS AND MOLECULAR BIOLOGY | 2010年 / 33卷 / 01期

关键词：

alpha-1; antitrypsin; SERPINA1; polymorphisms; COPD; emphysema; lung function; ALPHA(1)-ANTITRYPSIN DEFICIENCY; INHIBITOR; METAANALYSIS; EMPHYSEMA; ALLELE;

D O I：

10.1590/S1415-47572009005000107

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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, FEV(1) annual decline, determined during a two-year follow up period, revealed no difference among carriers of the tested polymorphisms.

引用

页码：23 / U30

页数：5

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