title: Risk and severity of COPD is associated with the group-specific component of serum globulin 1F allele.
abstract: BACKGROUND
  The finding that only 15 to 20% of cigarette smokers acquire COPD suggests that there is a genetic predisposition to the disease. Genetic polymorphism of the group-specific component of serum globulin (Gc-globulin), also known as vitamin-D-binding protein, is considered one of the candidates for the susceptibility to COPD. However, the role of Gc-globulin polymorphism in the development of COPD remains inconclusive.
  
  
  OBJECTIVE
  s: To determine whether Gc-globulin gene polymorphism plays a role in the development of COPD in the Japanese population, and whether it is associated with the physiologic deterioration in COPD, and its radiologically detectable correlates.
  
  
  METHODS
  Association study.
  
  
  METHODS
  One hundred three patients with COPD and 88 healthy smokers sampled from the Japanese population were genotyped for Gc-globulin by the restriction fragment-length polymorphism method. Based on the results of the genotyping, we investigated the relationship between Gc-globulin polymorphism and a physiologic/radiologic indicator of lung function, namely, the annual decline of FEV(1) (dFEV(1)) in 86 patients with COPD and 21 healthy smokers. Additionally, high-resolution CT parameters such as low-attenuation area percentage (LAA%) and average CT number (mean CT score) were measured in 85 patients with COPD.
  
  
  RESULTS
  There was an increased proportion of Gc*1F homozygotes in the patients with COPD (32%) compared with the healthy smokers (17%) [p = 0.01; odds ratio, 2.3; 95% confidence interval, 1.2 to 4.6]. Patients with COPD and the Gc*1F allele showed a larger dFEV(1) (p = 0.01), higher frequency with LAA% > 60% (p = 0.01), and lower mean CT score than patients without this allele (p = 0.03).
  
  
  CONCLUSIONS
  Gc-globulin polymorphism is significantly associated with susceptibility to COPD, and also with the severity of the disease.
authors.affiliation: Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan. isaoito@kuhp.kyoto-u.ac.jp
authors.forename: Isao
authors.initials: I
authors.lastname: Ito
authors.forename: Sonoko
authors.initials: S
authors.lastname: Nagai
authors.forename: Yuma
authors.initials: Y
authors.lastname: Hoshino
authors.forename: Shigeo
authors.initials: S
authors.lastname: Muro
authors.forename: Toyohiro
authors.initials: T
authors.lastname: Hirai
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Tsukino
authors.forename: Michiaki
authors.initials: M
authors.lastname: Mishima
mesh_terms: D000368:Aged; D000483:Alleles; D005260:Female; D005541:Forced Expiratory Volume; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D029424:Pulmonary Disease, Chronic Obstructive / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D014057:Tomography, X-Ray Computed; D014809:Vitamin D-Binding Protein / Q000235:genetics*
chemical_list: D014809:Vitamin D-Binding Protein