Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1
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Reappraisal of the genetic diversity and pharmacogenetic assessment of CES1. / Ferrero-Miliani, Laura; Bjerre, Ditte; Stage, Claus; Madsen, Majbritt Busk; Jűrgens, Gesche; Dalhoff, Kim Peder; Rasmussen, Henrik Berg.
I: Pharmacogenomics, Bind 18, Nr. 13, 08.2017, s. 1241-1257.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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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 - Jűrgens, Gesche
AU - Dalhoff, Kim Peder
AU - Rasmussen, Henrik Berg
PY - 2017/8
Y1 - 2017/8
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.
U2 - 10.2217/pgs-2017-0052
DO - 10.2217/pgs-2017-0052
M3 - Journal article
C2 - 28786738
VL - 18
SP - 1241
EP - 1257
JO - Pharmacogenomics
JF - Pharmacogenomics
SN - 1462-2416
IS - 13
ER -
ID: 185266914