Related Experiment Video
Updated: Feb 28, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Potential Minor Haplotypes of CYP2D6 in the Japanese Population
Masatoshi Masuda1, Tsutomu Fujiwara1, Masayuki Matsunaga2
1Headquarters of Clinical Development, Otsuka Pharmaceutical Co., Ltd., Osaka, Japan.
Researchers identified a potentially novel CYP2D6 haplotype in the Japanese population, involving a 100C>T variation without the 4180G>C marker. This finding could impact drug metabolism and pharmacokinetics in this group.
Area of Science:
- Pharmacogenomics
- Drug Metabolism
- Human Genetics
Background:
- Cytochrome P450 2D6 (CYP2D6) is a key polymorphic drug-metabolizing enzyme.
- Genetic variations in CYP2D6 significantly influence drug efficacy and patient response.
- Understanding CYP2D6 genetic diversity is crucial for personalized medicine.
Purpose of the Study:
- To investigate novel CYP2D6 haplotypes within the Japanese population.
- To analyze extensive clinical genotype data for previously unidentified genetic variations.
- To contribute to a comprehensive understanding of CYP2D6 pharmacogenetics in East Asian populations.
Main Methods:
- Genotyping of 723 Japanese individuals across 8 specific loci and gene deletion.
- Analysis of designated CYP2D6 alleles including *1, *2, *4, *5, *10, *14A, *14B, *18, *21, and *41.
- Utilized a large database of existing clinical study data for comprehensive analysis.
Main Results:
- Common CYP2D6 haplotypes (*1, *10, *2) showed frequencies of 43.5%, 38.0%, and 11.3% respectively.
- Two minor haplotypes were identified in 11 subjects, with frequencies of 0.4% each.
- A potentially novel haplotype (Hap2) involving 100C>T without 4180G>C was identified, estimated to affect metabolic activity.
Conclusions:
- A novel CYP2D6 haplotype (100C>T without 4180G>C) was discovered in the Japanese population.
- This haplotype may represent an exception to the established linkage disequilibrium between these loci.
- Further full sequencing is recommended to confirm the novelty and characteristics of this haplotype.
More Related Videos
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs