Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1

The CES1 gene encodes a hydrolase that metabolizes important drugs. Variants generated by exchange of segments with CES1P1 complicate genotyping of CES1. Using a highly specific procedure we examined DNA samples from 200 Caucasians and identified 46 single nucleotide variants (SNVs) in CES1 and 21 S...

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Bibliographic Details
Published in:Pharmacogenomics 2017-08, Vol.18 (13), p.1241-1257
Main Authors: Ferrero-Miliani, Laura, Bjerre, Ditte, Stage, Claus, Madsen, Majbritt Busk, Jűrgens, Gesche, Dalhoff, Kim Peder, Rasmussen, Henrik Berg
Format: Article
Language:English
Subjects:
Adult
Binding sites
Carboxylic Ester Hydrolases - genetics
Deoxyribonucleic acid
DNA
Genetic diversity
Genetic Variation - genetics
Genotyping
Haplotypes
Humans
Hydrolase
Metabolism
Metabolites
Mutation
Pharmacogenetics - methods
Pharmacogenomic Testing - methods
Polymorphism
Transcription factors
Young Adult
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Summary:The CES1 gene encodes a hydrolase that metabolizes important drugs. Variants generated by exchange of segments with CES1P1 complicate genotyping of CES1. Using a highly specific procedure we examined DNA samples from 200 Caucasians and identified 46 single nucleotide variants (SNVs) in CES1 and 21 SNVs in CES1A2, a hybrid composed of CES1 and CES1P1. Several of these SNVs were novel. The frequencies of SNVs with a potential functional impact were below 0.02 suggesting limited pharmacogenetic potential for CES1 genotyping. In silico PCR revealed that the majority of the primer pairs for amplification of CES1 or CES1A2 in three previous studies lacked specificity, which partially explains a limited overlap with our findings.
ISSN:1462-2416
1744-8042
DOI:10.2217/pgs-2017-0052