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CYP2D6 copy number distribution in the US population
Michelle Beoris1, Jean Amos Wilson, Jorge A Garces
1AltheaDx, San Diego, California, USA.
Pharmacogenetics and Genomics
|November 10, 2015
Summary
Cytochrome P450 2D6 (CYP2D6) gene copy number variations, including duplications and deletions, significantly impact drug metabolism. This genetic anomaly affects 12.6% of patients, influencing pharmacogenetic therapies.
Area of Science:
- Pharmacogenomics
- Genetics
- Drug Metabolism
Background:
- The cytochrome P450 2D6 (CYP2D6) gene is crucial for drug metabolism.
- Inheritable gene duplication and deletion variants of CYP2D6 are well-documented.
- CYP2D6 copy number variation (CNV) can alter drug response.
Purpose of the Study:
- To investigate the prevalence and impact of CYP2D6 CNV in a large clinical sample.
- To determine if CYP2D6 CNV represents a significant genetic factor in pharmacogenetics.
Main Methods:
- Analysis of over 30,000 deidentified clinical samples.
- Genotyping to identify CYP2D6 gene copy numbers (zero, one, three, or more).
Main Results:
- 12.6% of tested patients exhibited non-standard CYP2D6 gene copy numbers (zero, one, or ≥3).
- These variations represent a substantial portion of the patient population studied.
Conclusions:
- CYP2D6 CNV is a frequent genetic anomaly with significant implications.
- CYP2D6 CNV is likely the most impactful genetic factor for pharmacogenetic-directed therapies.
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