rs7294
This is a upstream gene variant variant in the VKORC1 gene.
▶ClinVar annotation
Vitamin K-dependent clotting factors, combined deficiency of, type 2; warfarin response - Dosage
View on ClinVar →▶Research that mentions this SNP (2)
▶Influence of ORM1 polymorphisms on the maintenance stable warfarin dosageAssociationN=191Lian Sheng Wang et al.(2013)· European Journal of Clinical Pharmacology
This study examined 191 Chinese patients on warfarin therapy to determine whether the ORM1 rs17650 polymorphism influences warfarin maintenance dosage. Results showed that warfarin dose was significantly correlated with VKORC1 rs7294, CYP2C9 rs1057910, and ORM1 rs17650 polymorphisms (all P<0.05), with these three genes explaining 24% of dosage variation. ORM1 *S/*S and *F1/*S carriers required approximately 10-17% lower warfarin doses compared to wild-type *F1/*F1 patients.
▶Association of warfarin dose with genes involved in its action and metabolismAssociationN=201Mia Wadelius et al.(2007)· Human Genetics
An association study of 201 warfarin-treated patients found that polymorphisms in VKORC1, CYP2C9, CYP2C18, CYP2C19, PROC, and APOE were significantly associated with warfarin dose requirement (P < 0.000175 for VKORC1 and CYP2C9). A multiple regression model incorporating VKORC1, CYP2C9, PROC, and non-genetic factors (age, bodyweight, drug interactions, treatment indication) accounted for 62% of the variance in warfarin dose.
About VKORC1
This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
View all VKORC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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