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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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CYP2C19 genetic polymorphism in the Vietnamese population.

Nhung Phuong Vu1,2, Hoa Thi Thanh Nguyen2, Ngoc Thi Bich Tran2

  • 1Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Cau Giay, Ha Noi, Vietnam.

Annals of Human Biology
|November 27, 2019
PubMed
Summary
This summary is machine-generated.

Genetic variations in CYP2C19 influence drug metabolism. This study details CYP2C19 allele frequencies in Vietnamese populations, revealing significant differences across ethnic groups and compared to global data.

Keywords:
Cytochrome P450drug metabolismpersonalised medicinepharmacogeneticspolymorphism

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Area of Science:

  • Pharmacogenomics
  • Human Genetics
  • Drug Metabolism

Background:

  • Genetic variations in CYP2C19 significantly impact drug metabolism and patient response.
  • Previous studies on CYP2C19 genetic diversity in Vietnam are limited, particularly across diverse ethnic groups.

Purpose of the Study:

  • To comprehensively investigate the genetic polymorphism of CYP2C19 in the Vietnamese population.
  • To determine the allele frequencies of common CYP2C19 variants (*2, *3, *17) across different Vietnamese ethnic groups.

Main Methods:

  • Sequencing of the promoter and all nine exons of CYP2C19 in 100 Vietnamese Kinh individuals.
  • Analysis of CYP2C19 *2, *3, and *17 variants using RFLP-PCR in 275 individuals from four minority ethnic groups (Tay, Muong, H'Mong, Nung).

Main Results:

  • In Kinh subjects, allele frequencies were: CYP2C19*1 (76%), *2 (20.5%), *3 (2.5%), and *17 (1%).
  • CYP2C19*17 prevalence was lower in Vietnamese Kinh compared to Western Asia/Europe; CYP2C19*2 frequency was higher than in Western Asia/Europe.
  • CYP2C19*2 allele frequency was significantly lower in Kinh compared to the other four ethnic minorities studied.

Conclusions:

  • This study provides crucial data on CYP2C19 genetic polymorphism within the diverse Vietnamese population.
  • Findings highlight ethnic variations in CYP2C19 allele frequencies, essential for personalized medicine and optimized drug therapy in Vietnam.