title: Genetic variants in ADAM33 are associated with airway inflammation and lung function in COPD.
abstract: 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.
authors.forename: Xinyan
authors.initials: X
authors.lastname: Wang
authors.forename: Wan
authors.initials: W
authors.lastname: Li
authors.forename: Kun
authors.initials: K
authors.lastname: Huang
authors.forename: Xiaowen
authors.initials: X
authors.lastname: Kang
authors.forename: Zhaoguo
authors.initials: Z
authors.lastname: Li
authors.forename: Chengcheng
authors.initials: C
authors.lastname: Yang
authors.affiliation: Department of Respiratory, the Second Affiliated Hospital of Harbin Medical University, Harbin 150081, China. wu.xiaomei@hotmail.com.
authors.forename: Xiaomei
authors.initials: X
authors.lastname: Wu
authors.forename: Lina
authors.initials: L
authors.lastname: Chen
mesh_terms: D051722:ADAM Proteins / Q000235:genetics* / Q000276:immunology; D000368:Aged; D044466:Asian People / Q000235:genetics; D005202:Asia, Eastern; D005260:Female; D005541:Forced Expiratory Volume / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D018836:Inflammation Mediators / Q000032:analysis*; D015850:Interleukin-6 / Q000032:analysis; D016209:Interleukin-8 / Q000032:analysis; D018655:Lymphocyte Count; D008264:Macrophages; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics* / Q000276:immunology; D011659:Pulmonary Gas Exchange / Q000235:genetics; D013183:Sputum / Q000737:chemistry* / Q000166:cytology*; D014409:Tumor Necrosis Factor-alpha / Q000032:analysis; D042461:Vascular Endothelial Growth Factor A / Q000032:analysis
chemical_list: D018836:Inflammation Mediators; D015850:Interleukin-6; D016209:Interleukin-8; D014409:Tumor Necrosis Factor-alpha; D042461:Vascular Endothelial Growth Factor A; D051722:ADAM Proteins; C450441:ADAM33 protein, human