<abstract xmlns="http://www.w3.org/1999/xhtml">

<sec><h3>Background</h3>
<p>The cytochrome P450 (<italic>CYP450</italic>) family is well known as a major group of drug metabolizing enzymes. The polymorphism of <italic>CYP450</italic> genes is the main factor having an impact on the interindividual difference in drug response, including drug efficacy and drug safety. The single nucleotide polymorphism (SNPs) of Vietnamese Kinh has been widely studied, but information about the copy number variations (CNVs) of other <italic>CYP450</italic> genes is still unknown.</p>
</sec>
<sec><h3>Objective</h3>
<p>To identify the CNV variability of <italic>CYP450</italic> in 154 healthy unrelated Kinh Vietnamese, except e<italic>CYP2D6</italic>, which was previously reported.</p>
</sec>
<sec><h3>Methods</h3>
<p>Multiplex Ligation-Dependent Probe Amplification (MLPA) was applied for determination of copy number of 10 <italic>CYP450</italic> genes. Later, PCR or quantitative PCR (qPCR) was used to confirm the detected CNVs in randomly chosen subjects.</p>
</sec>
<sec><h3>Results</h3>
<p>Of the 154 subjects, along with <italic>CYP2D6</italic>, 4 other <italic>CYP450</italic> genes showed CNVs including duplications (<italic>CYP1B1</italic>), deletions (<italic>CYP2A6</italic> and <italic>CYP2C9</italic>), and both duplications and deletions (<italic>CYP2E1</italic>). Among these, <italic>CYP2A6</italic> exhibited the greatest frequency of CNVs compared with other <italic>CYP450</italic>, in which <italic>CYP2A6</italic>Del accounted for 11%. Meanwhile, allele <italic>CYP2E1</italic>Del showed the lowest frequency with only 0.3%.</p>
</sec>
<sec><h3>Conclusions</h3>
<p>The present study provides new insight into <italic>CYP450</italic> CNVs in the Kinh Vietnamese cohort. Our data have contributed to genetic profiling of <italic>CYP450</italic> CNVs in Vietnam, which would be helpful for facilitating implementation of pharmacogenetics in drug dosing adjustment in Vietnam.</p>
</sec>
</abstract>

Background
The cytochrome P450 (CYP450) family is well known as a major group of drug metabolizing enzymes. The polymorphism of CYP450 genes is the main factor having an impact on the interindividual difference in drug response, including drug efficacy and drug safety. The single nucleotide polymorphism (SNPs) of Vietnamese Kinh has been widely studied, but information about the copy number variations (CNVs) of other CYP450 genes is still unknown.

Objective
To identify the CNV variability of CYP450 in 154 healthy unrelated Kinh Vietnamese, except eCYP2D6, which was previously reported.

Methods
Multiplex Ligation-Dependent Probe Amplification (MLPA) was applied for determination of copy number of 10 CYP450 genes. Later, PCR or quantitative PCR (qPCR) was used to confirm the detected CNVs in randomly chosen subjects.

Results
Of the 154 subjects, along with CYP2D6, 4 other CYP450 genes showed CNVs including duplications (CYP1B1), deletions (CYP2A6 and CYP2C9), and both duplications and deletions (CYP2E1). Among these, CYP2A6 exhibited the greatest frequency of CNVs compared with other CYP450, in which CYP2A6Del accounted for 11%. Meanwhile, allele CYP2E1Del showed the lowest frequency with only 0.3%.

Conclusions
The present study provides new insight into CYP450 CNVs in the Kinh Vietnamese cohort. Our data have contributed to genetic profiling of CYP450 CNVs in Vietnam, which would be helpful for facilitating implementation of pharmacogenetics in drug dosing adjustment in Vietnam.

Copy number variations of cytochrome <italic>P450</italic> genes in Kinh Vietnamese

Graduate University of Science and Technology

Asian Biomedicine

This work is licensed under the Creative Commons Attribution 4.0 International License.

Copy number variations of cytochrome  genes in Kinh Vietnamese

Background
The cytochrome P450 (CYP450) family is well known as a major group of drug metabolizing enzymes. The polymorphism of CYP450 genes is the main factor...

Copy number variations of cytochrome P450 genes in Kinh Vietnamese

Article Category: Brief communication

Pubblicato online: 17 set 2023

Pagine: 84 - 92

DOI: https://doi.org/10.2478/abm-2023-0048

Parole chiave
CNVs, drug metabolism, genetic variants, pharmacogenetics

© 2023 Nhung Phuong Vu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Copy number variations of cytochrome P450 genes in Kinh Vietnamese

Article Category: Brief communication

Pubblicato online: 17 set 2023

Pagine: 84 - 92

DOI: https://doi.org/10.2478/abm-2023-0048

Parole chiaveCNVs, drug metabolism, genetic variants, pharmacogenetics

© 2023 Nhung Phuong Vu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Parole chiave
CNVs, drug metabolism, genetic variants, pharmacogenetics