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 Kristensen & 8 andre Anne Katrine Pagsberg, Kerstin Jessica Plessen, Poul Erik Hansen, Thomas Werge, Jørgen Dyrborg, Maj Britt Lauritzen, Timothy Hughes, Yassine Kamal Lyauk

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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.
OriginalsprogEngelsk
TidsskriftPharmacogenomics
Vol/bind18
Udgave nummer13
Sider (fra-til)2017-0052
ISSN1462-2416
DOI
StatusUdgivet - 2017

Emneord

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

Citer dette

Ferrero-Miliani, L., Bjerre, D., Stage, C., Madsen, M. B., Jürgens, G., Dalhoff, K. P., ... Lyauk, Y. K. (2017). Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1. Pharmacogenomics, 18(13), 2017-0052. https://doi.org/10.2217/pgs-2017-0052
Ferrero-Miliani, Laura ; Bjerre, Ditte ; Stage, Claus ; Madsen, Majbritt Busk ; Jürgens, Gesche ; Dalhoff, Kim Peder ; Rasmussen, Henrik Berg ; Linnet, Kristian ; Thomsen, Ragnar ; Stefansson, Hreinn ; Hankemeier, Thomas ; Kaddurah-Daouk, Rima ; Brunak, Søren ; Taboureau, Olivier ; Nzabonimpa, Grace Shema ; Houmann, Tine ; Jeppesen, Pia ; Kaalund-Jørgensen, Kristine ; Hansen, Peter Riis ; Kristensen, Karl Emil ; Pagsberg, Anne Katrine ; Plessen, Kerstin Jessica ; Hansen, Poul Erik ; Werge, Thomas ; Dyrborg, Jørgen ; Lauritzen, Maj Britt ; Hughes, Timothy ; Lyauk, Yassine Kamal. / Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1. I: Pharmacogenomics. 2017 ; Bind 18, Nr. 13. s. 2017-0052.
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abstract = "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.",
keywords = "CES1, genetic diversity, pharmacogenetic assessment, single nucleotide variants, structural variants, CES1, genetic diversity, pharmacogenetic assessment, single nucleotide variants, structural variants",
author = "Laura Ferrero-Miliani and Ditte Bjerre and Claus Stage and Madsen, {Majbritt Busk} and Gesche J{\"u}rgens and Dalhoff, {Kim Peder} and Rasmussen, {Henrik Berg} and Kristian Linnet and Ragnar Thomsen and Hreinn Stefansson and Thomas Hankemeier and Rima Kaddurah-Daouk and S{\o}ren Brunak and Olivier Taboureau and Nzabonimpa, {Grace Shema} and Tine Houmann and Pia Jeppesen and Kristine Kaalund-J{\o}rgensen and Hansen, {Peter Riis} and Kristensen, {Karl Emil} and Pagsberg, {Anne Katrine} and Plessen, {Kerstin Jessica} and Hansen, {Poul Erik} and Thomas Werge and J{\o}rgen Dyrborg and Lauritzen, {Maj Britt} and Timothy Hughes and Lyauk, {Yassine Kamal}",
year = "2017",
doi = "10.2217/pgs-2017-0052",
language = "English",
volume = "18",
pages = "2017--0052",
journal = "Pharmacogenomics",
issn = "1462-2416",
publisher = "Future Medicine Ltd.",
number = "13",

}

Ferrero-Miliani, L, Bjerre, D, Stage, C, Madsen, MB, Jürgens, G, Dalhoff, KP, Rasmussen, HB, Linnet, K, Thomsen, R, Stefansson, H, Hankemeier, T, Kaddurah-Daouk, R, Brunak, S, Taboureau, O, Nzabonimpa, GS, Houmann, T, Jeppesen, P, Kaalund-Jørgensen, K, Hansen, PR, Kristensen, KE, Pagsberg, AK, Plessen, KJ, Hansen, PE, Werge, T, Dyrborg, J, Lauritzen, MB, Hughes, T & Lyauk, YK 2017, 'Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1', Pharmacogenomics, bind 18, nr. 13, s. 2017-0052. https://doi.org/10.2217/pgs-2017-0052

Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1. / Ferrero-Miliani, Laura; Bjerre, Ditte ; Stage, Claus; Madsen, Majbritt Busk; Jürgens, Gesche; Dalhoff, Kim Peder; Rasmussen, Henrik Berg; Linnet, Kristian; Thomsen, Ragnar; Stefansson, Hreinn; Hankemeier, Thomas; Kaddurah-Daouk, Rima; Brunak, Søren; Taboureau, Olivier; Nzabonimpa, Grace Shema; Houmann, Tine; Jeppesen, Pia; Kaalund-Jørgensen, Kristine; Hansen, Peter Riis; Kristensen, Karl Emil; Pagsberg, Anne Katrine; Plessen, Kerstin Jessica; Hansen, Poul Erik; Werge, Thomas; Dyrborg, Jørgen; Lauritzen, Maj Britt; Hughes, Timothy; Lyauk, Yassine Kamal.

I: Pharmacogenomics, Bind 18, Nr. 13, 2017, s. 2017-0052.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1

AU - Ferrero-Miliani, Laura

AU - Bjerre, Ditte

AU - Stage, Claus

AU - Madsen, Majbritt Busk

AU - Jürgens, Gesche

AU - Dalhoff, Kim Peder

AU - Rasmussen, Henrik Berg

AU - Linnet, Kristian

AU - Thomsen, Ragnar

AU - Stefansson, Hreinn

AU - Hankemeier, Thomas

AU - Kaddurah-Daouk, Rima

AU - Brunak, Søren

AU - Taboureau, Olivier

AU - Nzabonimpa, Grace Shema

AU - Houmann, Tine

AU - Jeppesen, Pia

AU - Kaalund-Jørgensen, Kristine

AU - Hansen, Peter Riis

AU - Kristensen, Karl Emil

AU - Pagsberg, Anne Katrine

AU - Plessen, Kerstin Jessica

AU - Hansen, Poul Erik

AU - Werge, Thomas

AU - Dyrborg, Jørgen

AU - Lauritzen, Maj Britt

AU - Hughes, Timothy

AU - Lyauk, Yassine Kamal

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

KW - CES1

KW - genetic diversity

KW - pharmacogenetic assessment

KW - single nucleotide variants

KW - structural variants

KW - CES1

KW - genetic diversity

KW - pharmacogenetic assessment

KW - single nucleotide variants

KW - structural variants

U2 - 10.2217/pgs-2017-0052

DO - 10.2217/pgs-2017-0052

M3 - Journal article

VL - 18

SP - 2017

EP - 2052

JO - Pharmacogenomics

JF - Pharmacogenomics

SN - 1462-2416

IS - 13

ER -

Ferrero-Miliani L, Bjerre D, Stage C, Madsen MB, Jürgens G, Dalhoff KP et al. Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1. Pharmacogenomics. 2017;18(13):2017-0052. https://doi.org/10.2217/pgs-2017-0052