1Department of Biology, Yazd University,Yazd, Iran.
2Department of Medical Genetics,Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Mother and Newborn Health Research Center, Shahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
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.