Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection

To comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6 duplications. Genotyping of 16 CYP2D6 alleles, multiplex ligation-dependent probe amplification (MLPA) and CYP2D6*36 and duplication allele-specifi...

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Bibliographic Details
Published in:Pharmacogenomics 2019-01, Vol.20 (1), p.9-20
Main Authors: Qiao, Wanqiong, Martis, Suparna, Mendiratta, Geetu, Shi, Lisong, Botton, Mariana R, Yang, Yao, Gaedigk, Andrea, Vijzelaar, Raymon, Edelmann, Lisa, Kornreich, Ruth, Desnick, Robert J, Scott, Stuart A
Format: Article
Language:English
Subjects:
Adult
African Americans - genetics
Alleles
Asian Continental Ancestry Group - genetics
Consortia
Conversion
Copy number
CYP2D6 protein
Cytochrome
Cytochrome P-450 CYP2D6 - genetics
Cytochrome P450
Deoxyribonucleic acid
DNA
DNA Copy Number Variations - genetics
Ethnic Groups - genetics
European Continental Ancestry Group - genetics
Female
Gene Frequency - genetics
Genetic testing
Genotype
Genotype & phenotype
Genotypes
Genotyping
Humans
Male
Metabolism
Population studies
Psychotropic drugs
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Description
Summary:To comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6 duplications. Genotyping of 16 CYP2D6 alleles, multiplex ligation-dependent probe amplification (MLPA) and CYP2D6*36 and duplication allele-specific genotyping were performed on 427 African-American, Asian, Caucasian, Hispanic, and Ashkenazi Jewish individuals. A novel PCR strategy determined that almost half of all CYP2D6*10 (100C>T) alleles are actually *36 (isolated or in tandem with *10) and all identified duplication alleles were characterized. Integrated results from all testing platforms enabled the refinement of genotype frequencies across all studied populations. The polymorphic CYP2D6 gene requires comprehensive interrogation to characterize allelic variation across ethnicities, which was enabled in this study by integrating multiplexed genotyping, MLPA copy number analysis, novel PCR strategies and duplication allele-specific genotyping.
ISSN:1462-2416
1744-8042
DOI:10.2217/pgs-2018-0135