Scientific Reports (Dec 2024)
Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals
- Jittima Piriyapongsa,
- Supatat Chumnumwat,
- Pavita Kaewprommal,
- Kwankom Triparn,
- Supharat Suvichapanich,
- Wanvisa Udomsinprasert,
- Jiraphun Jittikoon,
- Philip J. Shaw,
- Vorthunju Nakhonsri,
- Chumpol Ngamphiw,
- Pongsakorn Wangkumhang,
- Manop Pithukpakorn,
- Ekkapong Roothumnong,
- Supakit Wiboonthanasarn,
- Chulaluck Kuptanon,
- Natini Jinawath,
- Thantrira Porntaveetus,
- Prapat Suriyaphol,
- Vip Viprakasit,
- Prapaporn Pisitkun,
- Piranit Kantaputra,
- Thipwimol Tim-Aroon,
- Duangrurdee Wattanasirichaigoon,
- Thanyachai Sura,
- Kanya Suphapeetiporn,
- Orapan Sripichai,
- Apichai Khongphatthanayothin,
- Suthat Fucharoen,
- Nuttapong Ngamphaiboon,
- Vorasuk Shotelersuk,
- Surakameth Mahasirimongkol,
- Sissades Tongsima
Affiliations
- Jittima Piriyapongsa
- National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency
- Supatat Chumnumwat
- Department of Pharmacy, Faculty of Pharmacy, Mahidol University
- Pavita Kaewprommal
- National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency
- Kwankom Triparn
- National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency
- Supharat Suvichapanich
- Department of Biochemistry, Faculty of Pharmacy, Mahidol University
- Wanvisa Udomsinprasert
- Department of Biochemistry, Faculty of Pharmacy, Mahidol University
- Jiraphun Jittikoon
- Department of Biochemistry, Faculty of Pharmacy, Mahidol University
- Philip J. Shaw
- Medical Molecular Biotechnology Research Unit, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency
- Vorthunju Nakhonsri
- National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency
- Chumpol Ngamphiw
- National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency
- Pongsakorn Wangkumhang
- National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency
- Manop Pithukpakorn
- Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University
- Ekkapong Roothumnong
- Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University
- Supakit Wiboonthanasarn
- Siriraj Genomics, Faculty of Medicine Siriraj Hospital, Mahidol University
- Chulaluck Kuptanon
- Department of Pediatrics, Queen Sirikit National Institute of Child Health
- Natini Jinawath
- Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University
- Thantrira Porntaveetus
- Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry, Chulalongkorn University
- Prapat Suriyaphol
- Office for Research and Development, Faculty of Medicine, Siriraj Hospital, Mahidol University
- Vip Viprakasit
- Division of Hematology & Oncology, Department of Pediatrics & Siriraj Thalassemia Center, Siriraj Research Hospital, Mahidol University
- Prapaporn Pisitkun
- Division of Allergy, Immunology, and Rheumatology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University
- Piranit Kantaputra
- Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University
- Thipwimol Tim-Aroon
- Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
- Duangrurdee Wattanasirichaigoon
- Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University
- Thanyachai Sura
- Medical Genetics and Molecular Medicine Unit, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University
- Kanya Suphapeetiporn
- Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University
- Orapan Sripichai
- National Institute of Health, Department of Medical Sciences, Ministry of Public Health
- Apichai Khongphatthanayothin
- Division of Cardiology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University
- Suthat Fucharoen
- Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University
- Nuttapong Ngamphaiboon
- Division of Medical Oncology, Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University
- Vorasuk Shotelersuk
- Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University
- Surakameth Mahasirimongkol
- Information and Communication Technology Center, Office of Permanent Secretary, Ministry of Public Health
- Sissades Tongsima
- National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency
- DOI
- https://doi.org/10.1038/s41598-024-79018-6
- Journal volume & issue
-
Vol. 14,
no. 1
pp. 1 – 14
Abstract
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.
