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

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

SUBMITTER: Tomkova M 

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

REPOSITORIES: biostudies-literature