Inference of the Genetic Polymorphisms of CYP2D6 in Six Subtribes of the Malaysian Orang Asli from Whole-Genome Sequencing Data

Genetic Testing and Molecular Biomarkers
Choo Yee YuMohd Zaki Salleh

Abstract

CYP2D6 is one of the major enzymes in the cytochrome P450 monooxygenase system. It metabolizes ∼25% of prescribed drugs and hence, the genetic diversity of a CYP2D6 gene has continued to be of great interest to the medical and pharmaceutical industries. This study was designed to perform a systematic analysis of the CYP2D6 gene in six subtribes of the Malaysian Orang Asli. Genomic DNAs were extracted from the blood samples followed by whole-genome sequencing. The reads were aligned to the reference human genome hg19 and variants in the CYP2D6 gene were analyzed. CYP2D6*5 and duplication of CYP2D6 were analyzed using previously established methods. A total of 72 single nucleotide polymorphisms were identified. CYP2D6*1, *2, *4, *5, *10,*41, and duplication of the gene were found in the Orang Asli, whereby CYP2D6*2 and *41 alleles are reported for the first time in the Malaysian population. The findings in this study provide insights into the genetic polymorphisms of CYP2D6 in the Orang Asli of Peninsular Malaysia.

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Citations

Feb 2, 2019·Parasitology Research·Norliza Mat AriffinMohd Makmor-Bakry

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Methods Mentioned

BETA
pharmacotherapy
PCR
genotyping

Software Mentioned

Genome Analysis Toolkit ( GATK )
Haploview
SolexaQA
GATK HaplotypeCaller
SIFT
FastQC
BWA
PolyPhen
GATK

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