Publication: Resolving discordant CYP2D6 genotyping results in Thai subjects: Platform limitations and novel haplotypes
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Issued Date
2021-06-01
Resource Type
ISSN
17448042
14622416
14622416
Other identifier(s)
2-s2.0-85108174844
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Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Pharmacogenomics. Vol.22, No.9 (2021), 529-541
Suggested Citation
Yaowaluck Hongkaew, Wendy Y. Wang, Roger Gaedigk, Chonlaphat Sukasem, Andrea Gaedigk Resolving discordant CYP2D6 genotyping results in Thai subjects: Platform limitations and novel haplotypes. Pharmacogenomics. Vol.22, No.9 (2021), 529-541. doi:10.2217/pgs-2021-0013 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/76154
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Title
Resolving discordant CYP2D6 genotyping results in Thai subjects: Platform limitations and novel haplotypes
Abstract
Aim: Several CYP2D6 Luminex xTAG genotype calls were identified as inconsistent or suspicious among Thai subjects and further characterized to identify the root causes. Material & methods: Forty-eight subjects were followed-up with long-range-PCR, quantitative copy number assays and/or Sanger sequencing. Results: Most of the Luminex-duplication calls were either negative or had hybrid structures involving CYP2D6*36 in various configurations. Ten samples were inaccurately called as CYP2D6*2, *29 or *35 alleles. Sequencing revealed three novel haplotypes, CYP2D6*142, *143 and *144 of which two are nonfunctional. Conclusion: The Luminex platform produced a relatively high number of false genotype calls for Thai subjects. Our findings underscore the need for the systematic characterization of the CYP2D6 locus in diverse populations and rigorous platform validation.