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

Agnija Kivrane; Viktorija Igumnova; Janis Kimsis; Lauma Freimane; Darja Sadovska; Anda Viksna; Ilva Pole; Renate Ranka

doi:10.2217/pgs-2020-0128

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

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

Rīga Stradiņš University

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

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 language	English
Pages (from-to)	519-527
Number of pages	9
Journal	Pharmacogenomics
Volume	22
Issue number	9
DOIs	https://doi.org/10.2217/pgs-2020-0128
Publication status	Published - 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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.2217/pgs-2020-0128

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title = "Implementation of a next-generation sequencing-based targeted approach for full-length CYP3A4 gene sequencing",

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. ",

keywords = "CYP3A4, cytochrome P450, metabolic pathways, next-generation sequencing, pharmacogenetics",

author = "Agnija Kivrane and Viktorija Igumnova and Janis Kimsis and Lauma Freimane and Darja Sadovska and Anda Viksna and Ilva Pole and Renate Ranka",

note = "Funding Information: This study was supported by FLP Program/Ministry of Education and Science, Republic of Latvia. Project no. lzp2020/1-0050. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript. Publisher Copyright: {\textcopyright} 2021 Future Medicine Ltd.. All rights reserved.",

year = "2021",

month = jun,

doi = "10.2217/pgs-2020-0128",

language = "English",

volume = "22",

pages = "519--527",

journal = "Pharmacogenomics",

issn = "1462-2416",

publisher = "Future Medicine Ltd.",

number = "9",

}

TY - JOUR

T1 - Implementation of a next-generation sequencing-based targeted approach for full-length CYP3A4 gene sequencing

AU - Kivrane, Agnija

AU - Igumnova, Viktorija

AU - Kimsis, Janis

AU - Freimane, Lauma

AU - Sadovska, Darja

AU - Viksna, Anda

AU - Pole, Ilva

AU - Ranka, Renate

N1 - Funding Information: This study was supported by FLP Program/Ministry of Education and Science, Republic of Latvia. Project no. lzp2020/1-0050. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript. Publisher Copyright: © 2021 Future Medicine Ltd.. All rights reserved.

PY - 2021/6

Y1 - 2021/6

N2 - 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.

AB - 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.

KW - CYP3A4

KW - cytochrome P450

KW - metabolic pathways

KW - next-generation sequencing

KW - pharmacogenetics

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U2 - 10.2217/pgs-2020-0128

DO - 10.2217/pgs-2020-0128

M3 - Article

C2 - 34003019

AN - SCOPUS:85108161577

SN - 1462-2416

VL - 22

SP - 519

EP - 527

JO - Pharmacogenomics

JF - Pharmacogenomics

IS - 9

ER -

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

Abstract

Keywords*

Field of Science*

Publication Type*

UN SDGs

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