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

Issued Date

2024-12-01

Resource Type

Article

eISSN

20452322

DOI

10.1038/s41598-024-79018-6

Scopus ID

2-s2.0-85213504328

Journal Title

Scientific Reports

Volume

14

Issue

1

Rights Holder(s)

SCOPUS

Bibliographic Citation

Scientific Reports Vol.14 No.1 (2024)

Suggested Citation

Piriyapongsa J., Chumnumwat S., Kaewprommal P., Triparn K., Suvichapanich S., Udomsinprasert W., Jittikoon J., Shaw P.J., Nakhonsri V., Ngamphiw C., Wangkumhang P., Pithukpakorn M., Roothumnong E., Wiboonthanasarn S., Kuptanon C., Jinawath N., Porntaveetus T., Suriyaphol P., Viprakasit V., Pisitkun P., Kantaputra P., Tim-Aroon T., Wattanasirichaigoon D., Sura T., Suphapeetiporn K., Sripichai O., Khongphatthanayothin A., Fucharoen S., Ngamphaiboon N., Shotelersuk V., Mahasirimongkol S., Tongsima S. Pharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals. Scientific Reports Vol.14 No.1 (2024). doi:10.1038/s41598-024-79018-6 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/102620

Title

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

Author(s)

Piriyapongsa J.
 Chumnumwat S.
 Kaewprommal P.
 Triparn K.
 Suvichapanich S.
 Udomsinprasert W.
 Jittikoon J.
 Shaw P.J.
 Nakhonsri V.
 Ngamphiw C.
 Wangkumhang P.
 Pithukpakorn M.
 Roothumnong E.
 Wiboonthanasarn S.
 Kuptanon C.
 Jinawath N.
 Porntaveetus T.
 Suriyaphol P.
 Viprakasit V.
 Pisitkun P.
 Kantaputra P.
 Tim-Aroon T.
 Wattanasirichaigoon D.
 Sura T.
 Suphapeetiporn K.
 Sripichai O.
 Khongphatthanayothin A.
 Fucharoen S.
 Ngamphaiboon N.
 Shotelersuk V.
 Mahasirimongkol S.
 Tongsima S.

Author's Affiliation

Siriraj Hospital
 Chulalongkorn University
 Rangsit University
 King Chulalongkorn Memorial Hospital
 Faculty of Medicine Ramathibodi Hospital, Mahidol University
 Thailand Ministry of Public Health
 Mahidol University
 Thailand National Center for Genetic Engineering and Biotechnology
 Queen Sirikit National Institute of Child Health
 Institute of Molecular Biosciences, Mahidol University
 Faculty of Medicine, Chulalongkorn University
 Chiang Mai University

Corresponding Author(s)

Piriyapongsa J.

Other Contributor(s)

Mahidol University

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.

Keyword(s)

Multidisciplinary

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/102620

Collections

Scopus 2024