Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes
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.
CYP2D6; Luminex xTAG; Thai; genotype; risperidone
Hongkaew, Y., Wang, W. Y., Gaedigk, R., Sukasem, C., Gaedigk, A. Resolving discordant CYP2D6 genotyping results in Thai subjects: platform limitations and novel haplotypes Pharmacogenomics 22, 529-541 (2021).