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EnglishWarfarin (coumadin) is a worldwide-prescribed anticoagulant for the long-term treatment and prevention of thromboembolic events, presenting a great interindividual variability in the required dose. It is known that both environmental and genetic factors influence the dose necessary for the therapeutic effect. Herein we describe a pharmacogenetic study conducted on an Italian patient with warfarin hypersensitivity, who required a very low dosage to achieve therapeutic anticoagulation effect. We genotyped common polymorphisms in VKORC1, CYP2C9, and CYP4F2 genes, known to be involved in warfarin dosing. As the patient resulted in a mixture of low-dosing and high-dosing polymorphic variants, we searched for rare mutations by direct sequencing of the same genes. We identified in the CYP2C9 gene, a novel mutation in heterozygote status, c.374G>T, which produces the Arg125Leu substitution. We have observed, through an electrostatic analysis, that the new mutation produces an electrostatic alteration on the cytochrome surface.
Ciccacci, C., Falconi, M., Paolillo, N., Oteri, F., Forte, V., Novelli, G., et al. (2011). Characterization of a novel CYP2C9 gene mutation and structural bioinformatic protein analysis in a warfarin hypersensitive patient. PHARMACOGENETICS AND GENOMICS, 21(6), 344-346.
| Tipologia: | Articolo su rivista | |
| Citazione: | Ciccacci, C., Falconi, M., Paolillo, N., Oteri, F., Forte, V., Novelli, G., et al. (2011). Characterization of a novel CYP2C9 gene mutation and structural bioinformatic protein analysis in a warfarin hypersensitive patient. PHARMACOGENETICS AND GENOMICS, 21(6), 344-346. | |
| Lingua: | English | |
| Settore Scientifico Disciplinare: | Settore MED/03 - Genetica Medica | |
| Revisione (peer review): | Esperti anonimi | |
| Tipo: | Articolo | |
| Rilevanza: | Rilevanza internazionale | |
| Digital Object Identifier (DOI): | http://dx.doi.org/10.1097/FPC.0b013e328344c340 | |
| Stato di pubblicazione: | Pubblicato | |
| Data di pubblicazione: | 2011 | |
| Titolo: | Characterization of a novel CYP2C9 gene mutation and structural bioinformatic protein analysis in a warfarin hypersensitive patient | |
| Autori: | ||
| Autori: | Ciccacci, C; Falconi, M; Paolillo, N; Oteri, F; Forte, V; Novelli, G; Desideri, A; Borgiani, P | |
| Appare nelle tipologie: | 01 - Articolo su rivista |
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http://hdl.handle.net/2108/167814
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