• Assessment of Common Polymorphisms in CML within the Iranian Genomic Profile: Age of Onset Stratification and Drug Selection
  • Majid MesgarTehranni,1,* Seyedeh Atena Azami,2 Reza Mirlohi,3 Mohammad Mahdi Eslami,4
    1. Member of the Core Committee of the National Genomics Hub, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    2. Sina pathobiology laboratory, Guilan, Iran
    3. Member of the Bioinformatics Research Group, Nasim Research Institute, Tehran, Iran
    4. Member of the Bioinformatics Research Group, Nasim Research Institute, Tehran, Iran


  • Introduction: In this study, we investigated common genetic polymorphisms in Iranian patients with chronic myeloid leukemia (CML) and evaluated their association with age of onset and therapeutic drug selection.
  • Methods: Genetic data were obtained from both the MegaGene platform, a pharmacogenetics software, and the NCBI database. Variants were categorized and ranked based on citation frequency and population-specific information. Furthermore, gene expression levels were analyzed in the context of the Iranian genomic profile using MegaGene.
  • Results: Regarding the IL-1B gene, our analysis revealed that RS16944, RS1143634, and RS1143627 are the polymorphisms exhibiting the highest levels of expression when assessed in terms of citation frequency and population prevalence. Notably, these variants are distinctly expressed within the Iranian genomic profile, highlighting their potential relevance in this population.
  • Conclusion: Effective treatment of CML requires performing genetic testing prior to drug administration and therapy to identify polymorphisms in key genes, including IL1B, in patients. Detection of such polymorphisms allows for the selection of medications with minimized adverse effects, thereby enhancing both patient safety and therapeutic efficacy.
  • Keywords: Chronic myeloid leukemia (CML); Pharmacogenetics; Gene expression; Treatment; Polymorphisms