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Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations.
Tomková, Mária; Marohnic, Christopher C; Gurwitz, David; Seda, Ondrej; Masters, Bettie Sue Siler; Martásek, Pavel.
Afiliação
  • Tomková M; Department of Pediatrics, 1st Faculty of Medicine, Charles University, 128 08 Prague, Czech Republic.
Pharmacogenomics ; 13(5): 543-54, 2012 Apr.
Article em En | MEDLINE | ID: mdl-22462747
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Judeus / NADPH-Ferri-Hemoproteína Redutase / Mutação de Sentido Incorreto / Polimorfismo de Nucleotídeo Único Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male País/Região como assunto: Africa / Asia Idioma: En Ano de publicação: 2012 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Judeus / NADPH-Ferri-Hemoproteína Redutase / Mutação de Sentido Incorreto / Polimorfismo de Nucleotídeo Único Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Male País/Região como assunto: Africa / Asia Idioma: En Ano de publicação: 2012 Tipo de documento: Article