Document Details

Document Type : Article In Journal 
Document Title :
Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences
Full-gene haplotypes refine CYP2D6 metabolizer phenotype inferences
Document Language : English 
Abstract : CYP2D6 is a critical pharmacogenetic target, and polymorphisms in the gene region are commonly used to infer enzyme activity score and predict resulting metabolizer phenotype: poor, intermediate, extensive/normal, or ultrarapid which can be useful in determining cause and/or manner of death in some autopsies. Current genotyping approaches are incapable of identifying novel and/or rare variants, so CYP2D6 star allele definitions are limited to polymorphisms known a priori. While useful for most predictions, recent studies using massively parallel sequencing data have identified additional polymorphisms in CYP2D6 that are predicted to alter enzyme function but are not considered in current star allele nomenclature. The 1000 Genomes Project data were used to produce full-gene haplotypes, describe their distribution in super-populations, and predict enzyme activity scores. Full-gene haplotypes generated lower activity scores than current approaches due to inclusion of additional damaging polymorphisms in the star allele. These findings are critical for clinical implementation of metabolizer phenotype prediction because a fraction of the population may be incorrectly considered normal metabolizers but actually may be poor or intermediate metabolizers. 
ISSN : 1437-1596 
Journal Name : International Journal of Legal Medicine 
Volume : 132 
Issue Number : 4 
Publishing Year : 1439 AH
2018 AD
Article Type : Article 
Added Date : Wednesday, June 26, 2019 


Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Frank R. WendtWendt, Frank
Antti SajantilaSajantila, Antti ResearcherDoctorate 
Rodrigo S. Moura-NetoMoura-Neto, Rodrigo S.ResearcherDoctorate 
August E. WoernerWoerner, August E.ResearcherDoctorate 
Bruce BudowleBudowle, Bruce ResearcherDoctorate 


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