Resequencing CYP2D6 gene in Indian population: CYP2D6*41 identified as the major reduced function allele

Pharmacogenomics
Aarthi ManoharanSolai Elango Damodaran

Abstract

Aim: The CYP2D6 gene is highly polymorphic and harbors population specific alleles that define its predominant metabolizer phenotype. This study aimed to identify polymorphisms in Indian population owing to scarcity of CYP2D6 data in this population. Materials & methods: The CYP2D6 gene was resequenced in 105 south Indians using next generation sequencing technology and haplotypes were reconstructed. Results & conclusion: Four novel missense variants have been designated as CYP2D6*110, *111, *112 and *113. The most common alleles were CYP2D6*1 (42%), *2 (32%), and *41 (12.3%) and diplotypes were CYP2D6*1/*2 (26%), *1/*1 (11%), *2/*41 (10%) and *1/*41 (7%) accounting for high incidence of extensive metabolizers in Indians.

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Datasets Mentioned

BETA
AY545216
M33388

Methods Mentioned

BETA
amplicon sequencing
PCR
Illumina sequencing

Software Mentioned

MappingQualityFilter
Haploview
Genome Analysis Tool Kit ( GATK )
SIFT
Variation and Mutation Annotation Toolkit ( VariMAT )
GATK
PolyPhen
Python Molecular Viewer (
Ensembl
PHASE

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