title: Novel Mutations of the CHRNA3 Gene in Non-Small Cell Lung Cancer in an Iranian Population
abstract: Background: Lung cancer, the leading cause of cancer-related worldwide deaths, largely results from the combined
  effects of smoking exposure and genetic susceptibility. CHRNA3, a nicotinic acetylcholine receptor gene, is associated
  with lung cancer risk. This study sought to identify variations in exon 3 of CHRNA3 in an Iranian population with
  non-small cell lung cancer (NSCLC). Materials and methods: A case-control study including 147 individuals with lung
  cancer and 145 healthy individuals was conducted. As mobility shift caused by nucleotide substitutions might be due to
  a conformational change of single-stranded DNAs, we designated these as single-strand conformation polymorphisms
  (SSCPs). PCR amplified products with SSCP were subjected to DNA sequencing. Results: The sequencing results
  showed 3 polymorphisms in exon 3 of CHRNA3, rs8040868, rs763384023 and rs2869547 , the latter two of which
  have not been reported in NSCLC, previously. Conclusion: It appears that the rs8040868 may be considered as a
  pathogenic mutation associated with the clinical phenotype. Polymorphisms are important factors for development of
  cancers and may provide additional insights into mechanisms underlying NSCLC.
authors.affiliation: Department of Biology, Yazd University, Yazd, Iran. Email: smm_1349@yahoo.com
authors.forename: Nahid
authors.initials: N
authors.lastname: Mehrabi
authors.forename: Seyed Mohammad
authors.initials: SM
authors.lastname: Moshtaghioun
authors.forename: Hossein
authors.initials: H
authors.lastname: Neamatzadeh
keywords: Non-small cell lung cancer; CHRNA3; SSCPs; polymorphism; rs8040868