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

ABSTRACT: 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.To search for POR polymorphic alleles and estimate their frequencies in a Jewish population.We analyzed the POR gene in 301 Ashkenazi and Moroccan Jews.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).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.

SUBMITTER: Tomkova M

PROVIDER: S-EPMC4270371 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature

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

Tomková Mária M Marohnic Christopher C CC Gurwitz David D Seda Ondřej O Masters Bettie Sue Siler BS Martásek Pavel P

Pharmacogenomics 20120401 5

<h4>Background</h4>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.<h4>Aim</h4>To search for POR polymorphic alleles and estimate their frequencies in a Jewish population.<h4>Materials & methods</h4>We analyzed the POR gene in 301 Ashkenazi and Moroccan Jews.<h4>Results</h4>A total of 30 POR SNPs were ide ...[more]

PMID: 22462747

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