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

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• 作者：Xinyan Wang (7)
  Wan Li (8)
  Kun Huang (7)
  Xiaowen Kang (7)
  Zhaoguo Li (7)
  Chengcheng Yang (7)
  Xiaomei Wu (7)
  Lina Chen (8)
  
  7. Department of Respiratory ; the Second Affiliated Hospital of Harbin Medical University ; Harbin ; 150081 ; China
  8. College of Bioinformatics Science and Technology ; Harbin Medical University ; Harbin ; 150081 ; China
  
• 关键词：Chronic obstructive pulmonary disease ; SNP ; ADAM33 ; Haplotype ; Pulmonary function ; Airway inflammatory process
• 刊名：BMC Pulmonary Medicine
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：14
• 期：1
• 全文大小：983 KB
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  49. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2466/14/173/prepub
  
• 刊物主题：Pneumology/Respiratory System; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-2466

文摘

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.