• Effect of Variant and Drug Based on ID
  • mona maleknezhad yazdi ,1,* Ghadir Jamal,2
    1. Advanced Computational Center, Khayyam Innovation Ecosystem, Mashhad, Iran


  • Introduction: Genetic polymorphism is defined as the inheritance of a trait controlled by a single locus with two alleles, the frequency of the lowest alleles being: about 1% or more is one of the most important inherited polymorphisms known to affect the digestive system and drug response. Polymorphism of oxidation of debrisoquine type (CYP2D6). The disclosure of CYP2D6 polymorphism in the pharmacogenomics section of clinical pharmacology created modern attractions. Disease, heart failure, and atrial fibrillation Metoprolol is listed by the US Food and Drug Administration (FDA) as a relatively sensitive substrate for clinical drug-drug interaction (DDI) studies because it is primarily metabolized by cytochrome P450 2D6 (CYP2D). According to past studies, researchers in different countries found CYP2D6*1 variant, which is related to the drug metoprolol, and research was conducted on this drug, which is seen in heart failure.
  • Methods: From 500 next-generation sequencing samples, CYP2D6*1 allele were analyzed. This variant is associated with the drug metoprolol and is seen in heart failure, therefore, the CYP2D6*1 allele is assigned as a normal function allele by CPIC.
  • Results: The CYP2D6 quality is profoundly polymorphic in the allele frequency of rs16947 from 4 genome aggregation databases Genome, gnom AD Exome, 1000genomes, ALFA, gnom AD, the information of alleles based on the whole population or separately for each country was expressed as a percentage, which the gnom AD Genome database separately according to the analysis that was done From a total of n=40,724 in African and American population, A allele is 51.69% and G allele is 48.41% and 1000 genomes database from a total of n=1,322 in African and American population, A allele is 55.37% and G allele is 344.6% and ALFA database or based on data The allelic frequency collectors reported 33.98% of A allele and 66.02% of G allele from a total of n=1,904
  • Conclusion: The aim of this study is to associate a variant based on its ID and association with the target drug using the PharmGKB database, which is a knowledge base that shows the relationships between drugs, diseases/phenotypes, and genes involved in pharmacokinetics (PK) and It shows pharmacodynamics
  • Keywords: Cytochrome P450, Genetic polymorphism, Metoprolol drug, PharmGKB database