title: Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort.
abstract: OBJECTIVE
  Estimating polymorphic allele frequencies of the NADPH-CYP450 oxidoreductase (POR) gene in a Czech Slavic population.
  
  
  METHODS
  The POR gene was analyzed in 322 individuals from a control cohort by sequencing and high resolution melting analysis.
  
  
  RESULTS
  We identified seven unreported SNP genetic variations, including two SNPs in the 5' flanking region (g.4965C>T and g.4994G>T), one intronic variant (c.1899-20C>T), one synonymous SNP (p.20Ala=) and three nonsynonymous SNPs (p.Thr29Ser, p.Pro384Leu and p.Thr529Met). The p.Pro384Leu variant exhibited reduced enzymatic activities compared with wild-type.
  
  
  CONCLUSIONS
  New POR variant identification indicates the number of uncommon variants might be specific for each subpopulation being investigated, particularly germane to the singular role that POR plays in providing reducing equivalents to all CYP450s in the endoplasmic reticulum. Original submitted 15 September 2014; Revision submitted 17 November 2014.
authors.affiliation: Department of Pediatrics, First Faculty of Medicine, Charles University, 128 08 Prague, Czech Republic.
authors.forename: Mária
authors.initials: M
authors.lastname: Tomková
authors.forename: Satya Prakash
authors.initials: SP
authors.lastname: Panda
authors.forename: Ondřej
authors.initials: O
authors.lastname: Šeda
authors.forename: Alice
authors.initials: A
authors.lastname: Baxová
authors.forename: Martina
authors.initials: M
authors.lastname: Hůlková
authors.forename: Bettie Sue
authors.initials: BS
authors.lastname: Siler Masters
authors.forename: Pavel
authors.initials: P
authors.lastname: Martásek
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D015331:Cohort Studies; D003577:Cytochrome P-450 Enzyme System / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D018153:Czech Republic; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007700:Kinetics; D015810:Linkage Disequilibrium; D008297:Male; D008958:Models, Molecular; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation
chemical_list: C000602470:POR protein, human; D004247:DNA; D003577:Cytochrome P-450 Enzyme System
keywords: CYP; Czech Slavic population; NADPH-cytochrome; P450 oxidoreductase; P450 reductase; POR; allele frequencies; haplotype; pharmacogenetics