Format

Send to

Choose Destination
Pharmacogenomics. 2012 Apr;13(5):543-54. doi: 10.2217/pgs.12.21.

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

Author information

1
Department of Pediatrics, 1st Faculty of Medicine, Charles University, 128 08 Prague, Czech Republic.

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.

PMID:
22462747
PMCID:
PMC4270371
DOI:
10.2217/pgs.12.21
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Atypon Icon for PubMed Central
Loading ...
Support Center