ArticleScientific reports2020
Phenotype prediction and characterization of 25 pharmacogenes in Thais from whole genome sequencing for clinical implementation.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Pooled it
- Analytical Validation of an Annotation Tool for WGS-Based Pharmacogenomics: Preparing for Clinical Implementation in Pediatric Oncology.Clinical and translational science · 2026Article
- CGRP-targeted therapy fulfilling the treatment gap in medication-underuse setting: a retrospective cohort study at a tertiary headache center in Thailand, a lower-middle-income country.The journal of headache and pain · 2025Article
- Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals.Scientific reports · 2024Article
- A comprehensive Thai pharmacogenomics database (TPGxD-1): Phenotype prediction and variants identification in 942 whole-genome sequencing data.Clinical and translational science · 2024Article
- Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.Genes · 2024Article
- Article
- A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population.Scientific reports · 2023Article
- Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data.Frontiers in pharmacology · 2023Article
- Metagenomic analysis of viral genes integrated in whole genome sequencing data of Thai patients with Brugada syndrome.Genomics & informatics · 2022Article
- Bilirubin metabolism and UDP-glucuronosyltransferase 1A1 variants in Asians: Pathogenic implications and therapeutic response.The Kaohsiung journal of medical sciences · 2022Review
- Genotypic and phenotypic landscapes of 51 pharmacogenes derived from whole-genome sequencing in a Thai population.PloS one · 2022Article
- Dose of ritonavir-boosted atazanavir for HIV patient: a reappraisal based on genetic polymorphism epidemiology in Southeast Asia.International journal of physiology, pathophysiology and pharmacology · 2022Article
- Comprehensive characterization of pharmacogenes in a Taiwanese Han population.Frontiers in genetics · 2022Article
- Genetic landscape of 125 pharmacogenes in Chinese from the Chinese Millionome Database.Scientific reports · 2021Article
- Genetic risks and association with severe COVID-19 among global populations.Pathogens and global health · 2021Article
- Quantification of CYP3A and Drug Transporters Activity in Healthy Young, Healthy Elderly and Chronic Kidney Disease Elderly Patients by a Microdose Cocktail Approach.Frontiers in pharmacology · 2021Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Publicly available pharmacogenomics (PGx) databases enable translation of genotype data into clinically actionable information. As variation within pharmacogenes is population-specific, this study investigated the spectrum of 25 clinically relevant pharmacogenes in the Thai population (n = 291) from whole genome sequencing. The bioinformatics tool Stargazer was used for phenotype prediction, through assignment of alleles and detection of structural variation. Known and unreported potentially deleterious PGx variants were identified. Over 25% of Thais carried a high-risk diplotype in CYP3A5, CYP2C19, CYP2D6, NAT2, SLCO1B1, and UGT1A1. CYP2D6 structural variants accounted for 83.8% of all high-risk diplotypes. Of 39 known PGx variants identified, six variants associated with adverse drug reactions were common. Allele frequencies of CYP3A5*3 (rs776746), CYP2B6*6 (rs2279343), and NAT2 (rs1041983) were significantly higher in Thais than East-Asian and global populations. 121 unreported variants had potential to exert clinical impact, majority were rare and population-specific, with 60.3% of variants absent from gnomAD database. This study demonstrates the population-specific variation in clinically relevant pharmacogenes, the importance of CYP2D6 structural variation detection in the Thai population, and potential of unreported variants in explaining drug response. These findings are essential in development of dosing guidelines, PGx testing, clinical trials, and drugs.
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