• Association between CHRNA3 rs1051730 polymorphism and lung cancer susceptibility in Iranian population
  • parisa veiskarami,1 Massoud Houshmand,2 nafiseh ansarinejad,3 sharareh seifi,4 mohammad hadi Abbasian,5 bahareh Abbasi,6,*
    1. Medical Genetics Department, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
    2. Medical Genetics Department, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
    3. Department of Hematology and Medical Oncology, Rasool Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
    4. Chronic Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
    5. Medical Genetics Department, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
    6. Medical Genetics Department, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran


  • Introduction: Lung cancer, which categorize into small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC) is the leading cause of cancer-associated mortality worldwide. Smoking as an environmental factor is the major causes of lung cancer; nevertheless, the majority of smokers don’t develop Lung cancer during their life, genetic factors such as single nucleotide polymorphism (SNP). NSCLC constitutes ~80% of all lung cancers with a 5 year survival rates less than 15% % because most of the patients diagnosed at the advanced stage (stage III or IV) most likely as a result of low efficiency of treatment such as chemotherapy and radiotherapy in these stages. Finding new prognostic biomarkers allow the identification of susceptible person to lung cancer and diagnosis patients in early stages. CHRNA3 gene is a nicotinic acetylcholine receptor gene. Variation in this gene not only mediate nicotine addiction but also contribute to the development and progression of lung cancer. ABCB1 gene is a member of MDR genes which play critical role in homeostasis and export of carcinogens. Dysfunction of ABCB1 transporter as a result of genetic variations are related to lung cancer.
  • Methods: A case-control study including 108 individuals with non-small cell lung cancer and 120 healthy individuals was conducted. DNA was extracted from blood of all participants. Allele-specific primers for rs1051730 in CHRNA3 and rs3842 in ABCB1 were designed using Oligo Analyzer software. ARMs PCR and Tetra_ARMs PCR was used to amplified DNA and PCR amplified products were subjected to DNA sequencing. Statistical analysis were performed using SPSS software.
  • Results: The significant association was observed between rs1051730 and to lung cancer (OR=1.24, 95%CI=1.24-2.69, P value=1.83). However, the similar results were not observed for rs3842 (OR=1.17, 95%CI=0.74_1.87, P value=0.484). As well as the significant association was observed between smoking and lung cancer (OR=1.87, 95%CI=1.29_2.73, P value=0.001).
  • Conclusion: This study confirmed rs1051730 gene polymorphism association with susceptibility to lung cancer probably via controlling smoking-related behaviors because CHRNA3 is a nicotinic acetylcholine receptor gene and variation in this gene have a carcinogenic effect through smoking behaviors on lung cancer risk .
  • Keywords: Lung cancer, polymorphism, rs1051730, CHRNA3, rs3842, ABCB1, SNPs