Skip Navigation
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

National Institute of Environmental Health Sciences

Use this QR code to view the newest version of this document
Use this QR code to view the newest version of this document

Your Environment. Your Health.

Publication Detail

Title: A case study of acenocoumarol sensitivity and genotype-phenotype discordancy explained by combinations of polymorphisms in VKORC1 and CYP2C9.

Authors: Rettie, Allan E; Farin, Frederico M; Beri, Nitasha G; Srinouanprachanh, Sengkeo L; Rieder, Mark J; Thijssen, Henk H

Published In Br J Clin Pharmacol, (2006 Nov)

Abstract: To determine the cause of a genotype-phenotype discordancy for acenocoumarol sensitivity. Methods A patient, highly sensitive to acenocoumarol, and previously determined to carry only a single CYP2C9*3 allele, was genotyped for additional functionally defective alleles in the CYP2C9 and VKORC1 genes. Family members were also analyzed to trace the pedigree. Results The acenocoumarol-sensitive patient was found to possess, in addition to CYP2C9*3 allele, a CYP2C9*11 allele and the VKORC1 AA diplotype which were all traced back through the parental lines. Conclusions Acenocoumarol sensitivity in this subject is the consequence of inheritance of multiple functionally defective alleles in both the CYP2C9 and VKORC1 genes. The study provides additional data in support of diminished CYP2C9 activity due to the presence of the rare *11 allele.

PubMed ID: 16869821 Exiting the NIEHS site

MeSH Terms: Acenocoumarol/adverse effects*; Anticoagulants/adverse effects*; Aryl Hydrocarbon Hydroxylases/genetics*; Cytochrome P-450 CYP2C9; Drug Hypersensitivity/etiology*; Female; Humans; Male; Mixed Function Oxygenases/genetics*; Pedigree; Polymorphism, Genetic/genetics*; Vitamin K Epoxide Reductases; Warfarin/adverse effects*

Back
to Top