title: Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations.
abstract: BACKGROUND
  The enzyme NADPH-P450 oxidoreductase (POR) is the main electron donor to all microsomal CYPs. The possible contribution of common POR variants to inter- and intra-individual variability in drug metabolism is of great pharmacogenetic interest.
  
  
  OBJECTIVE
  To search for POR polymorphic alleles and estimate their frequencies in a Jewish population.
  
  
  METHODS
  We analyzed the POR gene in 301 Ashkenazi and Moroccan Jews.
  
  
  RESULTS
  A total of 30 POR SNPs were identified, nine in the noncoding regions and 21 in the protein-coding regions (ten synonymous, 11 missense). Six of these missense variants are previously undescribed (S102P, V164M, V191M, D344N, E398A and D648N).
  
  
  CONCLUSIONS
  The data collected in this study on missense POR SNPs, interpreted in light of the crystallographic structure of human POR, indicate that some POR missense variants may be potential biomarkers for future POR pharmacogenetic screening.
authors.affiliation: Department of Pediatrics, 1st Faculty of Medicine, Charles University, 128 08 Prague, Czech Republic.
authors.forename: Mária
authors.initials: M
authors.lastname: Tomková
authors.forename: Christopher C
authors.initials: CC
authors.lastname: Marohnic
authors.forename: David
authors.initials: D
authors.lastname: Gurwitz
authors.forename: Ondřej
authors.initials: O
authors.lastname: Seda
authors.forename: Bettie Sue Siler
authors.initials: BS
authors.lastname: Masters
authors.forename: Pavel
authors.initials: P
authors.lastname: Martásek
mesh_terms: D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews / Q000235:genetics*; D015810:Linkage Disequilibrium; D008297:Male; D008958:Models, Molecular; D009018:Morocco / Q000208:ethnology; D020125:Mutation, Missense; D009251:NADPH-Ferrihemoprotein Reductase / Q000737:chemistry / Q000235:genetics*; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers; D009251:NADPH-Ferrihemoprotein Reductase