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  • Investigating the association between K589E polymorphism of EXO1 gene with the risk of lung cancer as a clinical biomarker in Iranian population
  • Milad Pezeshki,1 Mahdi Nakhaee,2 Jamshid Ansari,3,* Azam Ahmadi,4 Saeed Ziaei,5 Roja Valipoor,6
    1. Development and research group of Lifeandme Company, Tehran, Iran.
    2. Development and research group of Lifeandme Company, Tehran, Iran.
    3. Department of Oncology, Ayatollah Khansari Hospital, Arak university of Medical Sciences, Arak, Iran.
    4. Infectious Diseases Research Center (IDRC), Arak University of Medical Sciences, Arak, Iran.
    5. Director of development and research group of Lifeandme Company, Tehran, Iran.
    6. Department of Laboratory Medicine, Faculty of Paramedical Sciences, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran


  • Introduction: Lung cancer is the cancer with the highest incidence and mortality rate in the world. In Iran lung cancer is the third most common type of cancer and its prevalence is increasing rapidly. Single nucleotide polymorphisms in DNA repair genes are associated with differences in the repair efficiency of DNA damage and may affect lung cancer. EXO1 is an important gene that is involved in the mismatch repair system. The existence of K589E polymorphism in the EXO1 gene may alter influencing the repair activity of EXO1 protein and be associated with lung cancer. The present study aimed to evaluate associations between the risk of lung cancer and K589E polymorphism in the EXO1 gene as a clinical biomarker in the Iranian population.
  • Methods: In this case-control study, the associations of Exo1 K589E polymorphism with lung cancer risk in the Iranian population were investigated. In total, 200 patients with lung cancer and 200 age- and gender-matched healthy controls recruited from Khansari Hospital in Arak city, were genotyped by PCR-RFLP techniques. Finally, statistical analysis was done using the software SPSS version 16. Binary logistic regression analysis was performed to evaluate the association of polymorphism studied with the risk of lung cancer.
  • Results: The frequencies genotypes and allele analysis for K589E polymorphism of the EXO1 gene in cases and the controls indicated that the AA genotype (P= 0.004, OR= 5.391, CI=95%; 1.690- 17.200) and A allele (P= 0.010, OR= 2.851, CI=95%; 1.291- 6.300) of this polymorphism associated with risk of lung cancer. In contrast, the GG genotype and G allele of this polymorphism showed a protective role against susceptibility to lung cancer.
  • Conclusion: There is a significant association between the K589E polymorphism of the EXO1 gene and the risk of susceptibility to lung cancer, which is following some researchers. K589E polymorphism of the EXO1 gene can be used as a biomarker for the risk of lung cancer, but more studies with high population size are required.
  • Keywords: Single Nucleotide Polymorphism, K589E, Lung Cancer, EXO1, PCR-RFLP