title: CHRNA5 gene D398N polymorphism in Japanese lung adenocarcinoma.
abstract: BACKGROUND
  Recently, to identify genetic factors that modify lung cancer risk, CHRNA5 non-synonymous variant amino acid position 398 (D398N) was identified. The site was a highly conserved in the second cellular loop of the nicotinic acetylcholine receptor subunit protein.
  
  
  METHODS
  We have investigated CHRNA5 gene polymorphism status in 302 surgically treated lung adenocarcinoma cases from Nagoya City University Hospital. The presence or absence of CHRNA5 polymorphism was analyzed by direct sequences. EGFR mutations status was already investigated and reported.
  
  
  RESULTS
  We detected nine cases (2.98%) of CHRNA5 polymorphism (D398N) in our cohort. Total EGFR mutations were present in 129 patients (42.7%). The polymorphism statuses were not correlated with gender (women; 2.1% versus men; 3.7%, P = 0.5119), smoking status (never smoker; 2.0% versus smoker; 4.0%, P = 0.3339), pathological stages (stage I; 2.6% versus stage II-IV; 3.8%, P = 0.7246), and EGFR mutation status of the lung adenocarcinomas (mutation; 2.3% versus wild type; 3.7%, P = 0.7373). In this analysis, CHRNA5 polymorphism (D398N) patients had significantly worse prognosis (5/9 were dead; mean survival = 27.1 mo) than the patients with CHRNA5 wild type (74/293 were dead; mean survival = 113.9 mo) (log-rank test; P = 0.0146).
  
  
  CONCLUSIONS
  Although CHRNA5 polymorphism is rare from Japanese lung cancer, polymorphism status might be correlated with shorter survival.
authors: Department of Surgery II, Nagoya City University Medical School, Nagoya, Japan. hisasaki@med.nagoya-cu.ac.jp
authors: Hidefumi
authors: H
authors: Sasaki
authors: Yu
authors: Y
authors: Hikosaka
authors: Katsuhiro
authors: K
authors: Okuda
authors: Osamu
authors: O
authors: Kawano
authors: Haruhiro
authors: H
authors: Yukiue
authors: Motoki
authors: M
authors: Yano
authors: Yoshitaka
authors: Y
authors: Fujii
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D000368:Aged; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011978:Receptors, Nicotinic / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C447158:CHRNA5 protein, human; D009419:Nerve Tissue Proteins; D011978:Receptors, Nicotinic