Chromosome - 16 SNP - rs2359612 Gene Name - VKORC1

Basic Information

Genotype Frequency
  • AG
  • GG
  • AA
Allele Frequency
  • G
  • A

SNP Expression Description

General SNP Description

Vitamin K related modification of the proteins allows them to bind Calcium ions (Ca2+), which is necessary for blood coagulation. Without Vitamin K or at low levels blood coagulation is severely impaired and fatal bleeding can occur. This can also happen because of Vitamin K antagonist, warfarin, and therefore the product encoded by this gene is sensitive to warfarin and could potentially cause treatment-induced bleeding.  Genetic variation in the Vitamin K epoxide reduction complex (VKORC1 rs2359612) is strongly associated with oral anticoagulant dose requirement for warfarin. In Chinese Han population the C allele of this SNP was associated with a lower dose of warfarin. In addition, low levels of Vitamin K weaken bones, promote artery calcification as well as of other soft tissues. Other possible disease associations of this SNP is also associated with Myocardial Infarction and Cerebrovascular Disease, Coronary Artery Disease in the presence of calcification and Cardiovascular Disease. In a study done on Chinese Han population in 2006, the C allele of this SNP has been associated with stroke and aortic dissection, however this was not confirmed in other studies thus it remains under investigation. Potential disease associations with this gene include Coumarin Resistance (i.e. warfarin), Combined Deficiency of Vitamin K- Dependent Clotting Factors.

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