Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Cytochrome P450, Subfamilie IIC, Polypeptid 9

Das CYP2C9-Gen kodiert ein Cytochrom P450 Enzym, welches insbesondere für die Metabolisierung von Tolbutamin, Warfarin (Phenprocoumon) und anderen eine Rolle zu spielen scheint. So sind bestimmte Variationen gefunden worden, bei denen die Patienten unter oralen Antikontrazeptiva eine Blutungsneigung aufweisen.

Diagnostik:

Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Coumarin-Resistenz
CYP2A6
CYP2C9
CYP4F2
VKORC1

Referenzen:

1.

Tate SK et al. (2005) Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.

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2.

Aithal GP et al. (1999) Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications.

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3.

Kidd RS et al. (1999) Pharmacokinetics of chlorpheniramine, phenytoin, glipizide and nifedipine in an individual homozygous for the CYP2C9*3 allele.

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4.

Thum T et al. (2000) Gene expression in distinct regions of the heart.

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5.

Kohn MH et al. (2000) A gene-anchored map position of the rat warfarin-resistance locus, Rw, and its orthologs in mice and humans.

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6.

Aithal GP et al. (2000) Relationship of polymorphism in CYP2C9 to genetic susceptibility to diclofenac-induced hepatitis.

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7.

Xie HG et al. (2001) Molecular basis of ethnic differences in drug disposition and response.

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8.

Leung AY et al. (2001) Genetic polymorphism in exon 4 of cytochrome P450 CYP2C9 may be associated with warfarin sensitivity in Chinese patients.

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9.

Higashi MK et al. (2002) Association between CYP2C9 genetic variants and anticoagulation-related outcomes during warfarin therapy.

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10.

Williams PA et al. (2003) Crystal structure of human cytochrome P450 2C9 with bound warfarin.

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11.

Kirchheiner J et al. (2003) Influence of CYP2C9 genetic polymorphisms on pharmacokinetics of celecoxib and its metabolites.

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12.

Fichtlscherer S et al. (2004) Inhibition of cytochrome P450 2C9 improves endothelium-dependent, nitric oxide-mediated vasodilatation in patients with coronary artery disease.

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13.

King BP et al. (2004) Upstream and coding region CYP2C9 polymorphisms: correlation with warfarin dose and metabolism.

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14.

Sanderson S et al. (2005) CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: a HuGEnet systematic review and meta-analysis.

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15.

Li T et al. (2006) Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation.

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16.

et al. (2009) Estimation of the warfarin dose with clinical and pharmacogenetic data.

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17.

Gray IC et al. (1995) A 2.4-megabase physical map spanning the CYP2C gene cluster on chromosome 10q24.

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18.

Steward DJ et al. (1997) Genetic association between sensitivity to warfarin and expression of CYP2C9*3.

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