Implementation of a next-generation sequencing-based targeted approach for full-length CYP3A4 gene sequencing

Agnija Kivrane (Coresponding Author), Viktorija Igumnova, Janis Kimsis, Lauma Freimane, Darja Sadovska, Anda Viksna, Ilva Pole, Renate Ranka

Research output: Contribution to journalArticlepeer-review

Abstract

Aim: To evaluate the application of next-generation sequencing-based targeted protocol for full-length CYP3A4 gene sequencing analysis. Materials & methods: The developed sequencing protocol was applied to analyze human DNA samples (n = 7) obtained from tuberculosis patients admitted to the Riga East University Hospital, Center of Tuberculosis and Lung diseases. Results: The sequencing data quality was sufficient for the detection of already known genetic variants, as well as for identifying rare and novel variants dispersed throughout the CYP3A4 gene with a high degree of confidence. Conclusion: Developed protocol can be applied in subpopulation level association studies to determine whether specific genetic variants or variant combinations from multiple regions of the CYP3A4 gene are of clinical significance.

Original languageEnglish
Pages (from-to)519-527
Number of pages9
JournalPharmacogenomics
Volume22
Issue number9
DOIs
Publication statusPublished - Jun 2021

Keywords*

  • CYP3A4
  • cytochrome P450
  • metabolic pathways
  • next-generation sequencing
  • pharmacogenetics

Field of Science*

  • 1.6 Biological sciences
  • 3.1 Basic medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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