Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort

Mária Tomková, Satya Prakash Panda, Ondřej Šeda, Alice Baxová, Martina Hůlková, Bettie Sue Siler Masters, Pavel Martásek

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2 Scopus citations

Abstract

Aim: 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. Conclusion: 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 languageEnglish (US)
Pages (from-to)205-215
Number of pages11
JournalPharmacogenomics
Volume16
Issue number3
DOIs
Publication statusPublished - Mar 1 2015

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Keywords

  • CYP
  • Czech Slavic population
  • NADPH-cytochrome
  • P450 oxidoreductase
  • P450 reductase
  • POR
  • allele frequencies
  • haplotype
  • pharmacogenetics

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Pharmacology

Cite this

Tomková, M., Panda, S. P., Šeda, O., Baxová, A., Hůlková, M., Siler Masters, B. S., & Martásek, P. (2015). Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort. Pharmacogenomics, 16(3), 205-215. https://doi.org/10.2217/pgs.14.169