Frequency of CYP2D6 Alleles Including Structural Variants in the United States.

ABSTRACT: The CYP2D6 gene encodes an enzyme important in the metabolism of many commonly used medications. Variation in CYP2D6 is associated with inter-individual differences in medication response, and genetic testing is used to optimize medication therapy. This report describes a retrospective study of CYP2D6 allele frequencies in a large population of 104,509 de-identified patient samples across all regions of the United States (US). Thirty-seven unique CYP2D6 alleles including structural variants were identified. A majority of these alleles had frequencies which matched published frequency data from smaller studies, while eight had no previously published frequencies. Importantly, CYP2D6 structural variants were observed in 13.1% of individuals and accounted fo

SUBMITTER: Del Tredici AL 

PROVIDER: S-EPMC5895772 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature