CYP2D6 Polymorphism in Patients of General Practice in Austria

Plain-language summary

The CYP 2D6 enzyme metabolizes a significant number of drugs frequently prescribed in general practice/ family medicine. Various genetically different variants define if the patient is an ultra-rapid (UM), an normal (NM) (the normal case), an intermediate (IM) or a poor metabolizer (PM). It is estimated that approximately 20- 25 % of frequently described drugs are activated to more active or metabolized to ineffective or less effective drugs by CYP 2D6. Substrates of CYP 2D6 are mainly antidepressants, neuroleptics, opioids (e.g. codeine), beta-blockers, anti-arrhythmic drugs and various other single drugs. In case of an UM a drug can be metabolized too rapidly losing its therapeutic effect, requiring a higher dosage, or it can have a toxic effect, if it is converted too rapidly in the effective form (e.g. codeine). If metabolized too slowly (PM) it can accumulate and reach toxic levels. In this observational study (1) data relating to the number of patients of a single Austrian general practice receiving one or more drugs metabolized by CYP 2D6 are collected by extracting their electronic records of the last 3 years. In addition (2) consecutive patients with unknown genetic status of their CYP 2D6 enzyme visiting the surgery for a routine blood test due to various reasons, are additionally tested for their CYP 2D6 metabolizing status, if they actually take a drug metabolized by CYP 2D6. The aim of the study is to generate CYP 2D6 polymorphism data from Caucasian patients of an average Austrian general practice for the first time, which allows to group patients according to their NM, UM, IM and PM status. This can be of considerable clinical relevance when prescribing specific drugs. This study tries to investigate in how many patients the knowledge of the CYP 2D6 metabolizing status could have an influence on choosing the actually prescribed drug. In addition we plan to describe the distribution of frequent and relevant CYP 2D6 alleles including their combinations in patients of an average Austrian general practice for comparison reasons with other Caucasian populations.

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