Pharmacogenetics

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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HistoryThis section has been translated automatically.

Bird, 1959

DefinitionThis section has been translated automatically.

Science of the knowledge of hereditary variants in the reaction to drugs and other externally supplied substances. Pharmacogenetics thus stands for the relationship and interplay between the genetic make-up of a person and his or her individual reaction to drugs (see also drug reaction, adverse drug reactions).

General informationThis section has been translated automatically.

All humans agree with each other in their genetic information to 99.9%. There are differences (polymorphisms) in about 3 million of the approximately 3 billion bases of our genetic information. Such polymorphisms are usually limited to 1 base within a gene. If the exchange of a base occurs in > 1% of the population, this is called a "single nucleotide polymorphism" or SNP. "Single nucleotide polymorphism" are, for example, partly responsible for the different efficacy and tolerability of drugs (see also degradation by cytochrome P450 enzymes).

OccurrenceThis section has been translated automatically.

  • The first observation of a polymorphic difference in the effect of a drug concerned the muscle relaxant suxamethonium, which is metabolised by pseudocholinesterase. Polymorphisms of the coding gene of this enzyme led in rare cases (1:3500 in people with white skin colour) to a delay in the degradation of suxamethonium and thus to a prolongation of the muscle relaxant effect.
  • Further dermatologically relevant examples:
    • Thiopyrin-S-methytransferase polymorphism. This enzyme plays a role in the metabolism of azathioprine. Patients with this gene polymorphism are at increased risk of developing life-threatening leukopenia.
    • Glucose-6-phosphate dehydrogenase polymorphism can lead to delayed degradation of DADPS and thus to increased methemoglobin formation.

LiteratureThis section has been translated automatically.

  1. Merk HF (2010) Pharmacogenetics. dermatologist 61: 650-653
  2. Vogel F (1959) Modern problems of human genetics. Result Inn Med Kinderheilkd 12: 52-125

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer