-
Je něco špatně v tomto záznamu ?
Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations
M. Tomková, CC. Marohnic, D. Gurwitz, O. Seda, BS. Masters, P. Martásek,
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem
NLK
ProQuest Central
od 2000-02-01 do 2020-12-31
Health & Medicine (ProQuest)
od 2000-02-01 do 2020-12-31
PubMed
22462747
DOI
10.2217/pgs.12.21
Knihovny.cz E-zdroje
- MeSH
- farmakogenetika MeSH
- frekvence genu MeSH
- genetické markery MeSH
- haplotypy MeSH
- jednonukleotidový polymorfismus MeSH
- lidé MeSH
- missense mutace MeSH
- molekulární modely MeSH
- NADPH-cytochrom c-reduktasa chemie genetika MeSH
- sekvenční analýza DNA MeSH
- vazebná nerovnováha MeSH
- židé genetika MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Geografické názvy
- Izrael MeSH
- Maroko MeSH
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.
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc13000897
- 003
- CZ-PrNML
- 005
- 20130111093116.0
- 007
- ta
- 008
- 130108s2012 enk f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.2217/pgs.12.21 $2 doi
- 035 __
- $a (PubMed)22462747
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a enk
- 100 1_
- $a Tomková, Mária $u Department of Pediatrics, 1st Faculty of Medicine, Charles University, 128 08 Prague, Czech Republic.
- 245 10
- $a Identification of six novel P450 oxidoreductase missense variants in Ashkenazi and Moroccan Jewish populations / $c M. Tomková, CC. Marohnic, D. Gurwitz, O. Seda, BS. Masters, P. Martásek,
- 520 9_
- $a 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.
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 _2
- $a frekvence genu $7 D005787
- 650 _2
- $a genetické markery $7 D005819
- 650 _2
- $a haplotypy $7 D006239
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a židé $x genetika $7 D007585
- 650 _2
- $a vazebná nerovnováha $7 D015810
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a molekulární modely $7 D008958
- 650 _2
- $a missense mutace $7 D020125
- 650 _2
- $a NADPH-cytochrom c-reduktasa $x chemie $x genetika $7 D009251
- 650 _2
- $a farmakogenetika $7 D010597
- 650 _2
- $a jednonukleotidový polymorfismus $7 D020641
- 650 _2
- $a sekvenční analýza DNA $7 D017422
- 651 _2
- $a Izrael $x epidemiologie $7 D007557
- 651 _2
- $a Maroko $x etnologie $7 D009018
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a Research Support, N.I.H., Extramural $7 D052061
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Marohnic, Christopher C
- 700 1_
- $a Gurwitz, David
- 700 1_
- $a Seda, Ondřej
- 700 1_
- $a Masters, Bettie Sue Siler
- 700 1_
- $a Martásek, Pavel
- 773 0_
- $w MED00008477 $t Pharmacogenomics $x 1744-8042 $g Roč. 13, č. 5 (2012), s. 543-54
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/22462747 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20130108 $b ABA008
- 991 __
- $a 20130111093223 $b ABA008
- 999 __
- $a ok $b bmc $g 963679 $s 799061
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2012 $b 13 $c 5 $d 543-54 $i 1744-8042 $m Pharmacogenomics $n Pharmacogenomics $x MED00008477
- LZP __
- $a Pubmed-20130108
