Genetic variants in ADAM33 are associated with airway inflammation and lung function in COPD

BMC Pulmonary Medicine

Lina Chen²  Xiaomei Wu¹  Chengcheng Yang¹  Zhaoguo Li¹  Xiaowen Kang¹  Kun Huang¹  Wan Li²  Xinyan Wang¹ 

[1] Department of Respiratory, the Second Affiliated Hospital of Harbin Medical University, Harbin 150081, China;College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China

关键词: Airway inflammatory process;    Pulmonary function;    Haplotype;    ADAM33;    SNP;    Chronic obstructive pulmonary disease;   

Others  :  1091511
DOI  :  10.1186/1471-2466-14-173

 received in 2013-10-22, accepted in 2014-10-20,  发布年份 2014

【 摘 要 】

Background

Genetic factors play a role in the development and severity of chronic obstructive pulmonary disease (COPD). The pathogenesis of COPD is a multifactorial process including an inflammatory cell profile. Recent studies revealed that single nucleotide polymorphisms (SNPs) within ADAM33 increased the susceptibility to COPD through changing the airway inflammatory process and lung function.

Methods

In this paper, we investigated associations of four polymorphisms (T1, T2, S2 and Q-1) of ADAM33 as well as their haplotypes with pulmonary function and airway inflammatory process in an East Asian population of patients with COPD.

Results

We found that T1, T2 and Q-1 were significantly associated with the changes of pulmonary function and components of cells in sputum of COPD, and T1 and Q-1 were significantly associated with cytokines and mediators of inflammation in airway of COPD in recessive models. 10 haplotypes were significantly associated with transfer factor of the lung for carbon monoxide in the disease state, 4 haplotypes were significantly associated with forced expiratory volume in one second, and other haplotypes were associated with airway inflammation.

Conclusions

We confirmed for the first time that ADAM33 was involved in the pathogenesis of COPD by affecting airway inflammation and immune response in an East Asian population. Our results made the genetic background of COPD, a common and disabling disease, more apparent, which would supply genetic support for the study of the mechanism, classification and treatment for this disease.

【 授权许可】

   
2014 Wang et al.; licensee BioMed Central Ltd.

【 图 表 】

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