Related Experiment Video
Updated: Feb 11, 2026
04:52
Following the Dynamics of Structural Variants in Experimentally Evolved Populations
Published on: February 3, 2023
1.4K
Frequency of CYP2D6 Alleles Including Structural Variants in the United States
Andria L Del Tredici1, Alka Malhotra1, Matthew Dedek1
1Millennium Health, LLC, San Diego, CA, United States.
Frontiers in Pharmacology
|April 21, 2018
Summary
Genetic variations in the CYP2D6 gene impact drug metabolism. This study reveals that CYP2D6 structural variants significantly affect drug response, particularly in poor metabolizers.
Area of Science:
- Pharmacogenomics
- Clinical Chemistry
Background:
- The CYP2D6 gene is crucial for metabolizing numerous medications.
- Inter-individual variability in CYP2D6 activity influences drug response.
- Genetic testing for CYP2D6 aids in personalized medication therapy.
Purpose of the Study:
- To determine CYP2D6 allele frequencies, including structural variants, in a large US population.
- To assess the contribution of CYP2D6 structural variants to overall genetic variation.
- To evaluate the impact of structural variants on CYP2D6 function and poor metabolizer status.
Main Methods:
- Retrospective analysis of 104,509 de-identified patient samples from the US.
- Comprehensive identification of CYP2D6 alleles, encompassing single copy and structural variants.
- Consistent methodology applied across all samples for variant detection.
Main Results:
- Thirty-seven unique CYP2D6 alleles were identified, with eight novel frequencies.
- CYP2D6 structural variants were present in 13.1% of individuals, comprising 7% of all variants.
- Structural variants, predominantly decreased- or no-function alleles, were found in 30% of poor metabolizers.
Conclusions:
- CYP2D6 structural variants are a significant factor in the genetic landscape of CYP2D6 function.
- These variants substantially impact the determination of CYP2D6 poor metabolizer status.
- The findings underscore the importance of including structural variants in CYP2D6 genetic testing for accurate pharmacogenomic assessment.
Related Concept Videos
01:49Multiple Allele Traits
38.2K
The Concept of Multiple Allelism
38.2K
02:30Histone Variants at the Centromere
5.1K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
5.1K
02:41Lethal Alleles
18.2K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
18.2K
03:38Measurement: Standard Units
82.2K
Every measurement provides three kinds of information: the size or magnitude of the measurement (a number), a standard of comparison for the measurement (a unit), and an indication of the uncertainty of the measurement. While the number and unit are explicitly represented when a quantity is written, the uncertainty is an aspect of the errors in the measurement results.
82.2K
03:02Measurement: Derived Units
56.0K
The International System of Units or SI system, by international agreement, has fixed measurement units for seven fundamental properties: length, mass, time, temperature, electric current, amount of substance, and luminosity. These are called the SI base units.
56.0K
01:21Frequency-dependent Selection
24.2K
When the fitness of a trait is influenced by how common it is (i.e., its frequency) relative to different traits within a population, this is referred to as frequency-dependent selection. Frequency-dependent selection may occur between species or within a single species. This type of selection can either be positive—with more common phenotypes having higher fitness—or negative, with rarer phenotypes conferring increased fitness.
24.2K