ArticlePharmacogenetics and genomics2010
Differential quantification of CYP2D6 gene copy number by four different quantitative real-time PCR assays.
Article in Pharmacogenetics and genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 40 citations in OpenAlex.
- Development of a Multifaceted Program for Pharmacogenetics Adoption at an Academic Medical Center: Practical Considerations and Lessons Learned.Clinical pharmacology and therapeutics · 2024Article
- Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing.The Journal of molecular diagnostics : JMD · 2022Article
- PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus.Communications biology · 2022Article
- Simple and Robust Detection ofPharmaceuticals (Basel, Switzerland) · 2022Article
- Identification and population genetic analyses of copy number variations in six domestic goat breeds and Bezoar ibexes using next-generation sequencing.BMC genomics · 2020Article
- A Review of the Important Role ofGenes · 2020Review
- Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Frequency ofFrontiers in pharmacology · 2018Article
- Sequencing the CYP2D6 gene: from variant allele discovery to clinical pharmacogenetic testing.Pharmacogenomics · 2017Review
- Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.NPJ genomic medicine · 2017Article
- Article
- A novel simple method for determining CYP2D6 gene copy number and identifying allele(s) with duplication/multiplication.PloS one · 2015Article
- Common CYP2D6 polymorphisms affecting alternative splicing and transcription: long-range haplotypes with two regulatory variants modulate CYP2D6 activity.Human molecular genetics · 2014Article
- Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation.The pharmacogenomics journal · 2013Article
- Concordance between CYP2D6 genotypes obtained from tumor-derived and germline DNA.Journal of the National Cancer Institute · 2013Article
- Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns.Genome medicine · 2012Review
- Identification of Novel CYP2D7-2D6 Hybrids: Non-Functional and Functional Variants.Frontiers in pharmacology · 2010Article
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
Copy number variations (CNVs) in the CYP2D6 gene contribute to interindividual variation in drug metabolism. As the most common duplicated allele in Asian populations is the nonfunctional CYP2D6*36 allele, the goal of this study was to identify CNV assays that can differentiate between multiple copies of the CYP2D6*36 allele and multiple copies of other CYP2D6 alleles. We determined CYP2D6 gene copy numbers in 32 individuals with known CYP2D6 CNVs from the Coriell Japanese-Chinese panel using four quantitative real-time PCR assays. These assays target different regions of the CYP2D6 gene: 5'-flanking region, intron 2, intron 6, and exon 9 (Ex9). The specific target site of the Ex9 assay was verified by sequencing the PCR amplicon. Three of the CYP2D6 CNV assays (5'-flanking region, intron 2, and intron 6) estimated CYP2D6 copy numbers that were concordant for all 32 individuals. However, the Ex9 assay was concordant in only 10 of 32 samples. The 10 concordant samples did not contain any CYP2D6*36 alleles and the 22 discordant samples contained at least one CYP2D6*36 allele. In addition, the Ex9 assay accurately quantified all of the non-CYP2D6*36 alleles in all samples. Ex9 amplicon sequencing indicated that it targets a region of CYP2D6 exon 9 that undergoes partial gene-conversion in the CYP2D6*36 allele. In conclusion, CYP2D6 Ex9 CNV assay can be used to determine the copy number of non-CYP2D6*36 alleles. Selective amplification of non-CYP2D6*36 sequence by the Ex9 assay should be useful in determining the number of functional copies of CYP2D6 in Asian populations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.