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Analysis of Cyp2d6 Gene Variant Frequencies in Iranian Population Publisher



Hokmabadi M1 ; Asadifard E1 ; Arbabibidgoli S2 ; Naghavi A3, 4 ; Hasanzad M5
Authors
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Authors Affiliations
  1. 1. Medical Genomic Research Center, Tehran Medical Sciences Islamic Azad University, Tehran, Iran
  2. 2. Department of Toxicology and Pharmacology, Faculty of Pharmacy and Pharmaceutical Sciences, Islamic Azad University, Tehran Medical Sciences (IAUTMU), Tehran, Iran
  3. 3. Department of Medical Genetics, School of Medicine, Zahedan University of Medical Sciences (ZAUMS), Zahedan, Iran
  4. 4. Cellular and Molecular Research Center, Research Institute of Cellular and Molecular Sciences in Infectious Diseases, Zahedan University of Medical Sciences, Iran
  5. 5. Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Medical Sciences Published:2025


Abstract

Background: The cytochrome P450 (P450s or CYPs) enzyme family, particularly CYP2D6, significantly influences drug metabolism, handling approximately 20-25% of prescribed medications. Understanding genetic polymorphisms is crucial for personalized medicine and optimizing drug therapy in specific geographic and racial contexts. Given the complex nature of studying CYP2D6 genotypes, this study aimed to assess the prevalence of rare CYP2D6 star alleles, including rs267608319 (CYP2D6*31), rs1931013246 (CYP2D6*55), rs569439709 (CYP2D6*113), and rs747089665 (CYP2D6*135), within the Iranian population. Methods: Blood samples were obtained from 389 individuals across several ethnic groups in Tehran, Iran, from May to December 2022. PCR was used to amplify the region containing the desired variant. Genotyping was performed using the Sanger sequencing method. Results: Our analysis revealed a high frequency of normal alleles for all four studied variants, indicating the absence of the risk allele in the Iranian population. These findings suggest that the studied alleles have no apparent effect on various ethnic groups in Iran. Conclusion: The Iranian population has a typical genetic makeup for CYP2D6 variations, impacting medication prescribing. Understanding genetic differences is crucial for personalized drug therapies. Further research into Iranian genetic variations is essential for advancing personalized medicine. © Iranian Journal of Medical Sciences.
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