Abstract
The genetic component was suggested to contribute to the development of chronic obstructive pulmonary disease (COPD), a major and growing public health burden. The present review aims to characterize the evidence that gene polymorphisms contribute to the aetiology of COPD and related traits, and explore the potential relationship between certain gene polymorphisms and COPD susceptibility, severity, lung function, phenotypes, or drug effects, even though limited results from related studies lacked consistency. Most of these studies were association studies, rather than confirmatory studies. More large-sized and strictly controlled studies are needed to prove the relationship between gene polymorphisms and the reviewed traits. More importantly, prospective confirmatory studies beyond initial association studies will be necessary to evaluate true relationships between gene polymorphisms and COPD and help individualized treatment for patients with COPD.
Highlights
Chronic obstructive pulmonary disease is characterized by the development of airflow limitation that is progressive and not fully reversible [1], and is a major and growing public health burden as the fourth leading cause of death in the world according to 2002 statistics [2]
The present review aims to characterize the evidence that gene polymorphisms contribute to the aetiology of chronic obstructive pulmonary disease (COPD) and related traits, and explore the potential relationship between certain gene polymorphisms and COPD susceptibility, severity, lung function, phenotypes or drug effects, even though limited results from related studies lacked consistency
The proportion of Glutathione S-transferases (GSTs) mu 1 (GSTM1)-null genotypes was significantly higher in patients with COPD than in controls in a Taiwanese population [29], while there was no difference in the frequency of polymorphic genotypes of GST theta 1 (GSTT1) and GST P1 (GSTP1)
Summary
Chronic obstructive pulmonary disease is characterized by the development of airflow limitation that is progressive and not fully reversible [1], and is a major and growing public health burden as the fourth leading cause of death in the world according to 2002 statistics [2]. The AAT coding gene SERPINA1 is highly polymorphic, with more than 125 single-nucleotide polymorphisms (SNPs) reported, its most common being the normal M allele and its subtypes, besides the deficient alleles protease inhibitor (PI) S (caused by a glutamate to valine mutation at position 264) and PI Z (caused by a glutamate to lysine mutation at position 342) [13] These alleles contribute to variant genotypes including MM, MS, SS, MZ, SZ and ZZ, resulting in different levels of AAT and COPD susceptibility. Values of TNF gene complex polymorphism (LtalphaNcoI*1/ 2) and TNF-308 were validated among COPD, disseminated bronchiectasis, non-obstructive pulmonary diseases, and healthy controls in Caucasoid individuals [22] This small population association study found that the TNF gene complex for the considered polymorphisms did not seem to be a major genetic risk factor in COPD. No effect on COPD risk from association study, minor effect on increased risk from meta-analysis
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