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Statements

Subject Item
n2:RIV%2F00064165%3A_____%2F12%3A11396%21RIV13-MZ0-00064165
rdf:type
skos:Concept n13:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.2217/PGS.12.21
dcterms:description
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 (5102P, 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. 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 (5102P, 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.
dcterms:title
Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations
skos:prefLabel
Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations
skos:notation
RIV/00064165:_____/12:11396!RIV13-MZ0-00064165
n13:predkladatel
n14:ico%3A00064165
n3:aktivita
n19:I n19:P
n3:aktivity
I, P(GAP301/10/1426)
n3:cisloPeriodika
5
n3:dodaniDat
n10:2013
n3:domaciTvurceVysledku
n11:4688678
n3:druhVysledku
n4:J
n3:duvernostUdaju
n9:S
n3:entitaPredkladatele
n18:predkladatel
n3:idSjednocenehoVysledku
140333
n3:idVysledku
RIV/00064165:_____/12:11396
n3:jazykVysledku
n15:eng
n3:klicovaSlova
allele frequencies; CYP; oxidoreductase haplotype; Jewish populations; pharmacogenetics; POR; antley-bixler-syndrome; congenital adrenal-hyperplasia; cytochrome-p450 oxidoreductase; in-vitro; disordered steroidogenesis; 21-hydroxylase deficiency; steroid-metabolism; genetic-variants; hepatic drug; mutations
n3:klicoveSlovo
n8:in-vitro n8:disordered%20steroidogenesis n8:cytochrome-p450%20oxidoreductase n8:congenital%20adrenal-hyperplasia n8:steroid-metabolism n8:allele%20frequencies n8:21-hydroxylase%20deficiency n8:antley-bixler-syndrome n8:genetic-variants n8:CYP n8:hepatic%20drug n8:Jewish%20populations n8:pharmacogenetics n8:mutations n8:oxidoreductase%20haplotype n8:POR
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[50D8F397E84B]
n3:nazevZdroje
Pharmacogenomics
n3:obor
n17:CE
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
6
n3:projekt
n7:GAP301%2F10%2F1426
n3:rokUplatneniVysledku
n10:2012
n3:svazekPeriodika
13
n3:tvurceVysledku
Tomková, Mária Gurwitz, D. Masters, BSS Šeda, Ondřej Marohnic, CC Martásek, Pavel
n3:wos
000302331400013
s:issn
1462-2416
s:numberOfPages
12