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The landscape of very important pharmacogenes variants and potential clinical relevance in the Chinese Jingpo population: a comparative study with worldwide populations

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Abstract

Background

Pharmacogenomics is a facet of personalized medicine that explores how genetic variants affect drug metabolism and adverse drug reactions. Therefore, this study aims to detect distinct pharmacogenomic variations among the Jingpo population and explore their clinical correlation with drug metabolism and toxicity.

Methods

Agena MassARRAY Assay was used to genotype 57 VIP variants in 28 genes from 159 unrelated Jingpo participants. Subsequently, the chi-squared test and Bonferroni’s statistical tests were utilized to conduct a comparative analysis of genotypes and allele frequencies between the Jingpo population and the other 26 populations from the 1000 Genome Project.

Results

We discovered that the KHV (Kinh in Ho ChiMinh City, Vietnam), CHS (Southern Han Chi­nese, China) and JPT (Japanese in Tokyo, Japan) exhibited the smallest differences from the Jingpo with only 4 variants, while ESN (Esan in Nigeria) exhibited the largest differences with 30 variants. Besides, a total of six considerably different loci (rs4291 in ACE, rs20417 in PTGS2, rs1801280 and rs1799929 in NAT2, rs2115819 in ALOX5, rs1065852 in CYP2D6, p < 3.37 × 10–5) were identified in this study. According to PharmGKB, rs20417 (PTGS2), rs4291 (ACE), rs2115819 (ALOX5) and rs1065852 (CYP2D6) were found to be associated with the metabolism efficiency of non-steroidal anti-inflammatory drugs (NSAIDs), aspirin, montelukast and tamoxifen, respectively. Meanwhile, rs1801280 and rs1799929 (NAT2) were found to be related to drug poisoning with slow acetylation.

Conclusion

Our study unveils distinct pharmacogenomic variants in the Jingpo population and discovers their association with the metabolic efficiency of NSAIDs, montelukast, and tamoxifen.

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Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Acknowledgements

We are deeply indebted to all participants in this research.

Funding

No funding was received for conducting this study.

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Authors and Affiliations

  1. Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, School of Life Sciences, Northwest University, #229 North TaiBai Road, Xi’an, 710069, Shaanxi, China

    Xiaoya Ma, Yujie Li, Xufeng Zang, Jinping Guo, Wenqian Zhou, Junhui Han, Jing Liang, Panpan Wan, Hua Yang & Tianbo Jin

  2. College of Life Science, Northwest University, Xi’an, 710069, Shaanxi, China

    Xiaoya Ma, Yujie Li, Xufeng Zang, Jinping Guo, Wenqian Zhou, Junhui Han, Jing Liang, Panpan Wan, Hua Yang & Tianbo Jin

  3. Shaanxi Provincial Key Laboratory of Biotechnology, Northwest University, Xi’an, 710069, Shaanxi, China

    Xiaoya Ma, Yujie Li, Xufeng Zang, Jinping Guo, Wenqian Zhou, Junhui Han, Jing Liang, Panpan Wan, Hua Yang & Tianbo Jin

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  1. Xiaoya Ma
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Contributions

The first draft of the manuscript was written by XM. YL, XZ and JG collected data and organized tables. XM and WZ were involved in the statistical analysis of the study. JH, JL and PW revised the manuscript. TJ and HY was responsible for managing and supervising the whole progress.

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Correspondence to Hua Yang or Tianbo Jin.

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The study was conducted in accordance with the study protocol approved by Northwest University.

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Ma, X., Li, Y., Zang, X. et al. The landscape of very important pharmacogenes variants and potential clinical relevance in the Chinese Jingpo population: a comparative study with worldwide populations. Cancer Chemother Pharmacol 93, 481–496 (2024). https://doi.org/10.1007/s00280-023-04638-0

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