Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1

Laura Ferrero-Miliani, Ditte Bjerre, Claus Stage, Majbritt Busk Madsen, Gesche Jürgens, Kim Peder Dalhoff, Henrik Berg Rasmussen, Kristian Linnet, Ragnar Thomsen, Hreinn Stefansson, Thomas Hankemeier, Rima Kaddurah-Daouk, Søren Brunak, Olivier Taboureau, Grace Shema Nzabonimpa, Tine Houmann, Pia Jeppesen, Kristine Kaalund-Jørgensen, Peter Riis Hansen, Karl Emil KristensenAnne Katrine Pagsberg, Kerstin Jessica Plessen, Poul Erik Hansen, Thomas Werge, Jørgen Dyrborg, Maj Britt Lauritzen, Timothy Hughes, Yassine Kamal Lyauk

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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.
Udgave nummer13
Sider (fra-til)2017-0052
Antal sider17
StatusUdgivet - 2017


  • CES1
  • genetic diversity
  • pharmacogenetic assessment
  • single nucleotide variants
  • structural variants

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