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![Types of Polymorphisms
Single Nucleotide
Polymorphism (SNP): GAATTTAAG
GAATTCAAG
Simple Sequence Length
Polymorphism (SSLP): NCACACACAN
NCACACACACACACAN
NCACACACACACAN
Insertion/Deletion: GAAATTCCAAG
GAAA[ ]CCAAG
Markers in Genetic Variation](https://image.slidesharecdn.com/presentation-160316032821/85/Pharmacogenomics-8-320.jpg)
Uploaded bySulov Saha
Pharmacogenomics
This document discusses pharmacogenomics and how genetic differences can influence individual responses to drugs. It provides examples of how single nucleotide polymorphisms and other genetic variations can affect drug targets, metabolizing enzymes, transporters, and ultimately impact pharmacokinetics, pharmacodynamics, efficacy, and toxicity. Specifically, it examines cases of polymorphisms in cytochrome P450 drug metabolizing enzymes like CYP2C9, CYP2C19, and CYP2D6 that can lead to differences in drug metabolism and clearance between fast, normal, and poor metabolizers. The goals of pharmacogenomics are to maximize drug efficacy, minimize toxicity, and aid precision medicine by predicting who will respond to certain drugs. Widespread application
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Pharmacogenomics
- 1. Presented by: Jatan Tanchangya AsifMohammad Salehin Md. Mohsin Ali Sulov Saha
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- 5. What is theproblem?
- 7. Genetic Differences Influencing DrugResponse • Mutation: difference in the DNA code that occurs in less than 1% of population • Polymorphism: difference in the DNA code that occurs in more than 1% of the population
- 8. Types of Polymorphisms Single Nucleotide Polymorphism (SNP): GAATTTAAG GAATTCAAG Simple Sequence Length Polymorphism (SSLP): NCACACACAN NCACACACACACACAN NCACACACACACAN Insertion/Deletion: GAAATTCCAAG GAAA[ ]CCAAG Markers in Genetic Variation
- 9. Drug Targets Drug Metabolizing Enzymes Drug Transporters PharmacokineticsPharmacodynamics Variability in Efficacy/Toxicity •Transporters •Plasma proteinbinding •Metabolising enzymes •Receptors •Ion channels •Enzymes •Immune molecules Ways of Influencing Drug Response
- 10. Polymorphisms Drug metabolism Adverse Drug Reaction Disease susceptibility Receptor sensitivity Drugtransport Responders/ Non-responders Genetic Polymorphisms Influencing Drug Response
- 11. A Case Studyon Drug Metabolizing Enzymes
- 12. 1A2 19% 2D6 3% 2E1 10% 3A4/5 42% 2C9 2C19 26% 1A2 5% 2D6 24% 2E1 1% 3A4/5 51% 2C9 2C19 19% Primary CYP Enzymesin Drug Metabolism % of total enzyme % of drugs metabolized
- 13. CYP2C9: Phenytoin, warfarin,NSAIDs etc. CYP2C19: Omeprazole, proguanil, diazepam CYP2D6: More than 60 drugs CYP2E1: Ethanol CYP1A6: Nicotine Phase - I enzymes known to have polymorphism
- 14. CYP 450 gene Mutant AllelesSubstrates CYP2C9*1 *2, *3, *4, *5, *6 Warfarin, losartan phenytoin, tolbutamide CYP2C19*1 *2, *3, *4, *5, *6, *7, *8 Proguanil, Imipramine, Ritonavir, nelfinavir, cyclophosphamide CYP2D6*1 *1XN, *2XN, *3,*4,*5, *6 *9,*10,*17 Clonidine, codeine, promethazine, propranolol, clozapine, fluoxetine, haloperidol, amitriptyline Mutant alleles of Phase I enzymes Red: Absent; Blue: Reduced; Green: Increased activity
- 15. Genetic Variations: DesipramineKinetics Due to Polymorphisms in CYP 2D6 Slow Extensive Metabolizer (most common) Poor Metabolizer TIME since administration log plasma Desipramine concentration Fast Extensive Metabolizer
- 16. Phase - IIenzymes known to have polymorphism NAT2: Isoniazid, hydralazine, GST: D-Penicillamine TPMT: Azathioprine, 6-MP Pseudocholinesterase: Succinyl choline UGT1A1: Irinotecan
- 17. Gene Mutant AllelesSubstrates NAT2 *2, *3, *5, *6,*7, *10,*14 Isoniazid, hydralazine, GST M1A/B, P1 M1 null, T1 null D-penicillamine TPMT *1,*2,*3A,C, *4-*8 Azathioprine, 6-MP UGT1A1 *28 Irinotecan Red: Absent; Blue: Reduced Mutant alleles of Phase II enzymes
- 18. Goals of Pharmacogenomics •Maximize drug efficacy • Minimize drug toxicity • Predict patients who will respond to intervention • Aid in new drug development
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- 21. • Drug developmentfor less-common SNP profiles • Insurance and Medicaid coverage • Education of health care providers • Ethical and privacy issues Issues related to Pharmacogenomics
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- 23. This is thehope!