Single nucleotide and structural variants of CYP2D6 gene in Kinh Vietnamese population

CYP2D6 genetic variations could result in alteration of CYP2D6 enzyme activity, leading to dissimilarity among individuals in regard of drug metabolism.This study aims to detect all genetic variants, allele, and genotype frequencies of CYP2D6 gene in 136 unrelated healthy Kinh Vietnamese volunteers....

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Published inMedicine (Baltimore) Vol. 98; no. 22; p. e15891
Main Authors Nguyen, Ha Hai, Ma, Thuong Thi Huyen, Vu, Nhung Phuong, Bach, Quynh Thi Nhu, Vu, Thang Hong, Nguyen, Ton Dang, Nong, Hai Van
Format Journal Article
LanguageEnglish
Published United States Wolters Kluwer Health 01.05.2019
Subjects
Adult
Asian People - genetics
Cytochrome P-450 CYP2D6 - genetics
Ethnicity - genetics
Female
Gene Frequency
Genotype
Humans
Introns - genetics
Linkage Disequilibrium
Male
Observational Study
Polymorphism, Single Nucleotide - genetics
Vietnam
Vietnam
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Summary:CYP2D6 genetic variations could result in alteration of CYP2D6 enzyme activity, leading to dissimilarity among individuals in regard of drug metabolism.This study aims to detect all genetic variants, allele, and genotype frequencies of CYP2D6 gene in 136 unrelated healthy Kinh Vietnamese volunteers. All single nucleotide variants (SNVs) and structural variations (SVs) of CYP2D6 gene were identified by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assay.Totally, 30 SNVs and 9 SVs including a whole gene deletion, 8 hybrid structures, and tandem arrangements were identified. Of the 7 novel SNVs detected, the 3157G>T (R329L) substitution was predicted to be deleterious by PROVEAN; the 3851G>A (W358X) variant resulted in a truncated protein; and the 2988G>A variant located in the intron 6 was predicted to be capable of modifying splicing motif by Human Splicing Finder. We determined 29 different genotypes of CYP2D6 from 136 individuals. The most common alleles were the CYP2D6*10 (43.75%), *1 (18.75%), and tandem arrangement *36-*10 (12.13%).This study provides best information on CYP2D6 polymorphism comprising the newly discovered SNVs, structural variations, and their frequencies in Kinh Vietnamese. These new data would be valuable in view of precise dosing of CYP2D6 metabolized drugs and giving better treatment outcome.
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ISSN:0025-7974
1536-5964
1536-5964
DOI:10.1097/MD.0000000000015891