Comprehensive characterization of pharmacogenes in a Taiwanese Han population

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.

Genome‑wide association study and polygenic risk scores predict psoriasis and its shared phenotypes in Taiwan

“…In the present study, a connection between psoriasis and specific genetic markers was discovered, namely, PSORS1C1, PSORS1C2, PSORS1C3, MICA and CDSN. These genes have been linked to various factors, such as human keratinocyte differentiation (53,(148)(149)(150), the inflammatory response (112,(151)(152)(153) and in medication toxicity, particularly the Stevens-Johnson syndrome associated with allopurinol (142,154,155).…”

Identification of 13 Novel Loci in a Genome-Wide Association Study on Taiwanese with Hepatocellular Carcinoma

“…The rs117719091-related gene PFKFB3 can induce glycolysis and activate hepatic stellate cells to promote liver fibrosis, and the knockdown of PFKFB3 inhibited HCC growth by damaging DNA repair function, leading to G2/M phase arrest and apoptosis [44,45]. The rs140233124-related gene KIAA0232 affects the platelet count and insulin secretion and may play a role in the cancerous metabolism of HCC [46,47]. The rs144225287related gene PRMT8 controls embryonic stem cell pluripotency through the PI3K/AKT signaling pathway and may induce HCC progression through cell-cycle control [48,59].…”

“…Four-digit HLA imputation and typing were performed on HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQA1, HLA-DQB1, HLA-DPA1, and HLA-DPB1 by using the Taiwanese population as reference. For post-imputation quality control, a call threshold of >0.9 was applied to remove poorly imputed HLA alleles [47].…”