title: Evaluation of the iPLEX® ADME PGx Pro Panel and allele frequencies of pharmacogenetic markers in Danes.
abstract: OBJECTIVE
  The iPlex® ADME PGx Pro Panel was developed to investigate 191 polymorphisms including single nucleotide polymorphisms (SNPs), insertion-deletions (INDELS), and copy number variations (CNV) relevant for absorption, distribution, metabolism, and excretion (ADME) of drugs. The purpose of this study was to perform a technical evaluation of the iPlex® ADME PGx Pro Panel by genotyping 50 unrelated Danes and estimate preliminary genotype frequencies among Danes.
  
  
  METHODS
  The investigations were performed by the use of PCR, single base extension (SBE) and Matrix Assisted Laser Desorption/Ionization-Time of Flight Mass Spectrometry (MALDI-TOF-MS).
  
  
  RESULTS
  The typing quality of 161 SNP assays was categorized as well performing or acceptable, whereas 22 SNP assays were categorized as either questionable or unacceptable. The frequencies of the genotypes observed in the Danish population were compared to those of the European reference population from the 1000 Genome Project. Three SNPs (rs737865, rs35167514, and rs34305973) showed statistically significantly differences between the frequencies of the 1000 Genomes Europeans and the Danes. The CNV assays could only be used as a guideline.
  
  
  CONCLUSIONS
  In conclusion, the iPlex® ADME PGx Pro Panel is a cost-effective way of genotyping genes relevant for ADME.
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V's Vej 11, 2100 Copenhagen, Denmark. Electronic address: l.jensen@sund.ku.dk.
authors.forename: Line
authors.initials: L
authors.lastname: Jensen
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V's Vej 11, 2100 Copenhagen, Denmark.
authors.forename: Claus
authors.initials: C
authors.lastname: Børsting
authors.affiliation: Department of Clinical Pharmacology, Bispebjerg and Frederiksberg University Hospital, Copenhagen, Denmark.
authors.forename: Kim
authors.initials: K
authors.lastname: Dalhoff
authors.affiliation: Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Frederik V's Vej 11, 2100 Copenhagen, Denmark.
authors.forename: Niels
authors.initials: N
authors.lastname: Morling
mesh_terms: D003718:Denmark; D005787:Gene Frequency; D005819:Genetic Markers; D006801:Humans; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D005819:Genetic Markers
keywords: Agena bioscience; Allele frequencies; Pharmacogenetics; SNP; iPlex® ADME PGx Pro Panel