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. 2022 Aug 25:13:948616.
doi: 10.3389/fgene.2022.948616. eCollection 2022.

Comprehensive characterization of pharmacogenes in a Taiwanese Han population

Hsing-Fang Lu  1 , Ting-Yuan Liu  2 , Yu-Pao Chou  2   3 , Shih-Sheng Chang  4   5 , Yow-Wen Hsieh  6   7 , Jan-Gowth Chang  2   8 , Fuu-Jen Tsai  1   9   10   11
Affiliations

Comprehensive characterization of pharmacogenes in a Taiwanese Han population

Hsing-Fang Lu et al. Front Genet. .

Abstract

Pharmacogenetic (PGx) testing has not been well adopted in current clinical practice. The phenotypic distribution of clinically relevant pharmacogenes remains to be fully characterized in large population cohorts. In addition, no study has explored actionable PGx alleles in the East Asian population at a large scale. This study comprehensively analyzed 14 actionable pharmacogene diplotypes and phenotypes in 172,854 Taiwanese Han individuals by using their genotype data. Furthermore, we analyzed data from electronic medical records to investigate the effect of the actionable phenotypes on the individuals. The PGx phenotype frequencies were comparable between our cohort and the East Asian population. Overall, 99.9% of the individuals harbored at least one actionable PGx phenotype, and 29% of them have been prescribed a drug to which they may exhibit an atypical response. Our findings can facilitate the clinical application of PGx testing and the optimization of treatment and dosage individually.

Keywords: CYP; HLA; SNP microarray; pharmacogenetics; population genetics.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Phenotype frequencies for CYP family genes between different platforms and the East Asian population cohort. The detailed sample size and the frequency of each phenotype are listed in Supplementary Table S3.
FIGURE 2
FIGURE 2
Phenotype frequencies for non-CYP family genes among the genotyping array, WGS data, and East Asian population cohort. The detailed sample size and the frequency of each phenotype are provided in Supplementary Table S3.
FIGURE 3
FIGURE 3
Allele frequency distribution of HLA genes. Frequencies less than 0.001 are not shown in this plot.
FIGURE 4
FIGURE 4
Prescribed percentages of pharmacogene-related drugs according to FDA guidelines. The figure presents the phenotype frequencies from the PGxPOP of the subjects from the CMUH that have ever been prescribed the treatment, the generic name of the drug, the genes that affect the treatment, and the percentage of the FDA guidance evidence level from left to right.
See this image and copyright information in PMC

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