Literature DB >> 22462747

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

Mária Tomková1, Christopher C Marohnic, David Gurwitz, Ondřej Seda, Bettie Sue Siler Masters, Pavel Martásek.   

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.

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Year:  2012        PMID: 22462747      PMCID: PMC4270371          DOI: 10.2217/pgs.12.21

Source DB:  PubMed          Journal:  Pharmacogenomics        ISSN: 1462-2416            Impact factor:   2.533


  53 in total

1.  Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.

Authors:  Ningwu Huang; Vishal Agrawal; Kathleen M Giacomini; Walter L Miller
Journal:  Proc Natl Acad Sci U S A       Date:  2008-01-29       Impact factor: 11.205

2.  Personalized pharmacotherapy: genotypes, biomarkers, and beyond.

Authors:  D Gurwitz; J E Lunshof
Journal:  Clin Pharmacol Ther       Date:  2008-11-12       Impact factor: 6.875

Review 3.  Functional pharmacogenetics/genomics of human cytochromes P450 involved in drug biotransformation.

Authors:  Ulrich M Zanger; Miia Turpeinen; Kathrin Klein; Matthias Schwab
Journal:  Anal Bioanal Chem       Date:  2008-08-10       Impact factor: 4.142

4.  Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system.

Authors:  Daniela Moutinho; Christopher C Marohnic; Satya P Panda; José Rueff; Bettie Sue Masters; Michel Kranendonk
Journal:  Drug Metab Dispos       Date:  2012-01-17       Impact factor: 3.922

5.  The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.

Authors:  Larissa G Gomes; Ningwu Huang; Vishal Agrawal; Berenice B Mendonça; Tania A S S Bachega; Walter L Miller
Journal:  J Clin Endocrinol Metab       Date:  2008-04-08       Impact factor: 5.958

6.  Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19.

Authors:  Vishal Agrawal; Ningwu Huang; Walter L Miller
Journal:  Pharmacogenet Genomics       Date:  2008-07       Impact factor: 2.089

7.  Combined use of mass spectrometry and heterologous expression for identification of membrane-interacting peptides in cytochrome P450 46A1 and NADPH-cytochrome P450 oxidoreductase.

Authors:  Natalia Mast; Wei-Li Liao; Irina A Pikuleva; Illarion V Turko
Journal:  Arch Biochem Biophys       Date:  2009-01-10       Impact factor: 4.013

Review 8.  Genetic and clinical features of p450 oxidoreductase deficiency.

Authors:  Rachel R Scott; Walter L Miller
Journal:  Horm Res       Date:  2008-02-06

9.  Differential inhibition of CYP17A1 and CYP21A2 activities by the P450 oxidoreductase mutant A287P.

Authors:  Vivek Dhir; Hannah E Ivison; Nils Krone; Cedric H L Shackleton; Aidan J Doherty; Paul M Stewart; Wiebke Arlt
Journal:  Mol Endocrinol       Date:  2007-05-15

10.  Counting the founders: the matrilineal genetic ancestry of the Jewish Diaspora.

Authors:  Doron M Behar; Ene Metspalu; Toomas Kivisild; Saharon Rosset; Shay Tzur; Yarin Hadid; Guennady Yudkovsky; Dror Rosengarten; Luisa Pereira; Antonio Amorim; Ildus Kutuev; David Gurwitz; Batsheva Bonne-Tamir; Richard Villems; Karl Skorecki
Journal:  PLoS One       Date:  2008-04-30       Impact factor: 3.240

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  5 in total

1.  Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.

Authors:  Karen M McCammon; Satya P Panda; Chuanwu Xia; Jung-Ja P Kim; Daniela Moutinho; Michel Kranendonk; Richard J Auchus; Eileen M Lafer; Debashis Ghosh; Pavel Martasek; Rekha Kar; Bettie Sue Masters; Linda J Roman
Journal:  J Biol Chem       Date:  2016-08-05       Impact factor: 5.157

Review 2.  Pharmacogenetics in Jewish populations.

Authors:  Yao Yang; Inga Peter; Stuart A Scott
Journal:  Drug Metabol Drug Interact       Date:  2014

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

Authors:  Mária Tomková; Satya Prakash Panda; Ondřej Šeda; Alice Baxová; Martina Hůlková; Bettie Sue Siler Masters; Pavel Martásek
Journal:  Pharmacogenomics       Date:  2015       Impact factor: 2.533

Review 4.  Pharmacogenomics of human P450 oxidoreductase.

Authors:  Amit V Pandey; Patrick Sproll
Journal:  Front Pharmacol       Date:  2014-05-09       Impact factor: 5.810

5.  Correlation of Cytochrome P450 Oxidoreductase Expression with the Expression of 10 Isoforms of Cytochrome P450 in Human Liver.

Authors:  Hai-Feng Zhang; Zhi-Hui Li; Jia-Yu Liu; Ting-Ting Liu; Ping Wang; Yan Fang; Jun Zhou; Ming-Zhu Cui; Na Gao; Xin Tian; Jie Gao; Qiang Wen; Lin-Jing Jia; Hai-Ling Qiao
Journal:  Drug Metab Dispos       Date:  2016-06-06       Impact factor: 3.922

  5 in total

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