Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals

Inter-individual variability in drug responses is significantly influenced by genetic factors, underscoring the importance of population-specific pharmacogenomic studies to optimize clinical outcomes. In this study, we analyzed whole genome sequencing data from 949 unrelated Thai individuals and conducted an in-depth analysis of 3239 genes involved in drug pharmacokinetics, pharmacodynamics, or immune-mediated adverse drug reactions. We identified 43 single nucleotide polymorphisms (SNPs), 134 diplotypes, and 15 human leukocyte antigen (HLA) alleles, all with moderate to high clinical significance. On average, each Thai individual carried 14 SNPs, one to two HLA alleles, and six diplotypes with actionable phenotypic associations. Clinically important diplotypes were present in over 20% of individuals for seven genes (CYP2A6, CYP2B6, CYP2C19, CYP3A5, NAT2, SLCO1B1, and VKORC1). In addition, clinically significant SNPs with allele frequencies exceeding 20% were identified among 15 genes, including VKORC1, CYP4F2, and ABCG2. We also identified 21,211 potentially deleterious variants among 3239 genes. Of these variants, 3746 were novel. The comprehensive dataset from this study serves as a valuable resource of pharmacogenomic variants in the Thai population, which will facilitate the development of personalized drug therapies and enhance patient care in Thailand.

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Publication Details

Journal
Scientific Reports
Published
2024-12-27
DOI
https://doi.org/10.1038/s41598-024-79018-6
Citations
5
Primary Topic
Pharmacogenetics and Drug Metabolism
Type
article
Field-Weighted Citation Impact
2.33

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Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals

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Scientific Reports
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2.33
article

Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals

Manop Pithukpakorn, Natini Jinawath, Kanya Suphapeetiporn, Pavita Kaewprommal, Ekkapong Roothumnong, Piranit Nik Kantaputra, Philip J. Shaw, Orapan Sripichai, Vorasuk Shotelersuk, Kwankom Triparn, Jittima Piriyapongsa, Thanyachai Sura, Chulaluck Kuptanon, Duangrurdee Wattanasirichaigoon, Chumpol Ngamphiw, Supakit Wiboonthanasarn, Sissades Tongsima, Supatat Chumnumwat, Thipwimol Tim‐Aroon, Prapat Suriyaphol, Vorthunju Nakhonsri, Wanvisa Udomsinprasert, Nuttapong Ngamphaiboon, Supharat Suvichapanich, Prapaporn Pisitkun, Jiraphun Jittikoon, Apichai Khongphatthanayothin, Pongsakorn Wangkumhang, Vip Viprakasit, Thantrira Porntaveetus, Surakameth Mahasirimongkol, Suthat Fucharoen
article en
5 citations

Abstract

Inter-individual variability in drug responses is significantly influenced by genetic factors, underscoring the importance of population-specific pharmacogenomic studies to optimize clinical outcomes. In this study, we analyzed whole genome sequencing data from 949 unrelated Thai individuals and conducted an in-depth analysis of 3239 genes involved in drug pharmacokinetics, pharmacodynamics, or immune-mediated adverse drug reactions. We identified 43 single nucleotide polymorphisms (SNPs), 134 diplotypes, and 15 human leukocyte antigen (HLA) alleles, all with moderate to high clinical significance. On average, each Thai individual carried 14 SNPs, one to two HLA alleles, and six diplotypes with actionable phenotypic associations. Clinically important diplotypes were present in over 20% of individuals for seven genes (CYP2A6, CYP2B6, CYP2C19, CYP3A5, NAT2, SLCO1B1, and VKORC1). In addition, clinically significant SNPs with allele frequencies exceeding 20% were identified among 15 genes, including VKORC1, CYP4F2, and ABCG2. We also identified 21,211 potentially deleterious variants among 3239 genes. Of these variants, 3746 were novel. The comprehensive dataset from this study serves as a valuable resource of pharmacogenomic variants in the Thai population, which will facilitate the development of personalized drug therapies and enhance patient care in Thailand.

Scientific ReportsVol. 14(1)
Thai Red Cross Society (TH), Ministry of Public Health (TH), National Science and Technology Development Agency (TH), Siriraj Hospital (TH), Chulalongkorn University (TH), Mahidol University (TH), King Chulalongkorn Memorial Hospital (TH), Queen Sirikit National Institute of Child Health (TH), Department of Medical Sciences (TH), Ramathibodi Hospital (TH), Chiang Mai University (TH), Rangsit University (TH), National Center for Genetic Engineering and Biotechnology (TH)
Chiang Mai University, National Science and Technology Development Agency, Thailand Research Fund, Health Systems Research Institute
Zero hunger
Openalex Percentile: Top 12%
Pharmacogenetics and Drug Metabolism
2.33
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