Common VKORC1 and GGCX polymorphisms associated with warfarin dose

Pharmacogenomics J. 2005;5(4):262-70. doi: 10.1038/sj.tpj.6500313.

Abstract

We report a novel combination of factors that explains almost 60% of variable response to warfarin. Warfarin is a widely used anticoagulant, which acts through interference with vitamin K epoxide reductase that is encoded by VKORC1. In the next step of the vitamin K cycle, gamma-glutamyl carboxylase encoded by GGCX uses reduced vitamin K to activate clotting factors. We genotyped 201 warfarin-treated patients for common polymorphisms in VKORC1 and GGCX. All the five VKORC1 single-nucleotide polymorphisms covary significantly with warfarin dose, and explain 29-30% of variance in dose. Thus, VKORC1 has a larger impact than cytochrome P450 2C9, which explains 12% of variance in dose. In addition, one GGCX SNP showed a small but significant effect on warfarin dose. Incorrect dosage, especially during the initial phase of treatment, carries a high risk of either severe bleeding or failure to prevent thromboembolism. Genotype-based dose predictions may in future enable personalised drug treatment from the start of warfarin therapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Anticoagulants / administration & dosage*
  • Anticoagulants / therapeutic use
  • Carbon-Carbon Ligases / genetics*
  • Dose-Response Relationship, Drug
  • Female
  • Haplotypes
  • Humans
  • Male
  • Middle Aged
  • Mixed Function Oxygenases / genetics*
  • Polymorphism, Single Nucleotide*
  • Regression Analysis
  • Vitamin K Epoxide Reductases
  • Warfarin / administration & dosage*
  • Warfarin / therapeutic use

Substances

  • Anticoagulants
  • Warfarin
  • Mixed Function Oxygenases
  • VKORC1 protein, human
  • Vitamin K Epoxide Reductases
  • Carbon-Carbon Ligases
  • glutamyl carboxylase