Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations

Mria Tomkov, Christopher C. Marohnic, David Gurwitz, Ondaej Eda, Bettie Sue Siler Masters, Pavel Martsek

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

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. Aim: To search for POR polymorphic alleles and estimate their frequencies in a Jewish population. Materials & 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). Conclusion: 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. Original submitted 28 September 2011; Revision submitted 9 February 201.

Original languageEnglish (US)
Pages (from-to)543-554
Number of pages12
JournalPharmacogenomics
Volume13
Issue number5
DOIs
StatePublished - Apr 2012

Keywords

  • CYP oxidoreductase
  • Jewish populations
  • POR
  • allele frequencies
  • haplotype
  • pharmacogenetics

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics
  • Pharmacology

Fingerprint Dive into the research topics of 'Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations'. Together they form a unique fingerprint.

Cite this