title: Association of ADAM33 gene polymorphisms with COPD in the Mongolian population of China.
abstract: BACKGROUND
  Chronic obstructive pulmonary disease (COPD) is a respiratory disorder with increasing prevalence and mortality, influenced by both environmental and genetic factors. ADAM33 gene has been found to be associated with asthma, declined lung function and COPD.
  
  
  OBJECTIVE
  The aim of this study was to find out if SNPs in ADAM33 (V4, T+1, T1, T2, S1, S2, Q-1 and F+1) play any role in genetic susceptibility to COPD in the Mongolian population of China.
  
  
  METHODS
  Two hundred and fifteen Mongolian COPD patients and 223 Mongolian healthy individuals were recruited for the study. Eight polymorphic loci (V4, T+1, T2, T1, S2, S1, Q-1, and F+1) of ADAM33 were selected for genotyping. Genotyping was carried out using the Polymerase Chain Reaction and Restriction Fragment Length polymorphism (PCR-RFLP) method.
  
  
  RESULTS
  Seven SNPs in ADAM33 were associated with COPD (T+1, p = 0.014; T2, p = 0.018; T1, p = 0.048; S2, p = 0.003; S1, p = 0.000; Q-1, p = 0.000 and F+1, p = 0.000), even after Bonferroni correction, SNPs S2, S1, Q-1 and F+1 remained significant. Haplotype analysis showed that the frequencies of haplotype H1 (GGAGGGT), H5 (GGAGGGC) and H10 (GGGGAGT) were significantly higher in the COPD group than in the control group (p = 0.002, 0.031 and 0.009, respectively). In contrast, the haplotype H11 (GGACAGC) was more common in the control group than in the case group (p = 0.015).
  
  
  CONCLUSIONS
  Seven SNPs in ADAM33 were associated with COPD in the Mongolian population of China.
authors.affiliation: Department of Respiratory, The Second Affiliated Hospital of Harbin Medical University , Harbin 150081 , PR China .
authors.forename: Jie
authors.initials: J
authors.lastname: Tan
authors.forename: Ai Ping
authors.initials: AP
authors.lastname: Liu
authors.forename: Chao
authors.initials: C
authors.lastname: Sun
authors.forename: Yun Fei
authors.initials: YF
authors.lastname: Bai
authors.forename: Fuzhen
authors.initials: F
authors.lastname: Lv
mesh_terms: D051722:ADAM Proteins / Q000235:genetics* / Q000378:metabolism; D000368:Aged; D002681:China; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D012907:Smoking / Q000453:epidemiology*
chemical_list: D051722:ADAM Proteins; C450441:ADAM33 protein, human