ビタミンKとγ-Gultamyl carboxylase遺伝子多型(<特集>「ビタミンと遺伝子多型」-ビタミンK-)

概要

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Vitamin K is a cofactor of γ-glutamyl carboxylase (GGCX) which is responsible for converting specific glutamyl residues to γ-carboxyglutamyl residues in a vitamin K-dependent protein (VKDP). Both of vitamin K and GGCX are essential for activation of VKDP, such as clotting factors II, VII, IX, and X, or osteocalcin which is a bone-related protein. Therefore, there is a possibility that the GGCX polymorphisms would affect activation of blood coagulation or bone formation. Specifically, the influence of rs699664 (Arg325Gln) single nucleotide polymorphism (SNP) in exon 8 and rs10654848 microsatellite in intron 6 on activation of clotting factors or bone metabolism have been reported frequently. Also, there are data that GGCX variants influence the dose requirement of warfarin in the general population. In this report, I would like to review about the kinds of GGCX polymorphism, and its effects on vitamin K action.
2013-08-25