Chromosome - 16 SNP - rs9923231 Gene Name - VKORC1

Basic Information

Genotype Frequency
  • CT
  • CC
  • TT
Allele Frequency
  • C
  • T

SNP Expression Description

General SNP Description

This SNP has been identified as the major pharmacodynamic determinant of coumarin dose, the most prescribed drugs for therapy and prevention of Thromboembolic conditions. Findings related to the treatment of Venous Thromboembolism with the blood thinner warfarin indicate that carriers of the T allele require reduced doses of warfarin and are at a higher risk of bleeding. The T allele at this SNP is also a suitable biomarker for warfarin dosing across ethnic populations. Diseases associated with this SNP include the following:  Warfarin Sensitivity, Bone Mineral Density (BMD), Large-Artery Atherosclerotic Stroke. This SNP is also involved in vitamin K reduction and associated with deep venous thrombosis, correlating with Systemic Lupus Erythematosus (leads to chronic inflammation) in the Asian population. The function of this gene is involved in vitamin K metabolism and is responsible for modifying proteins to bind Calcium ions (Ca2+), which is necessary for blood coagulation.  Vitamin K deficiency severely impairs blood coagulation and causes uncontrollable bleeding, as well as weakens bones, promotes artery calcification and calcification of other soft tissues.Fatal bleeding can be caused by vitamin K deficiency and by the vitamin K antagonist warfarin, and thus suggesting sensitivity to warfarin of this gene product.

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