ビタミンD結合タンパク質の遺伝子多型と疾患(<特集>「ビタミンと遺伝子多型」-ビタミンD-)

竹谷 豊, 大南 博和, 中橋 乙起, 池田 翔子

doi:10.20632/vso.87.9_506

書誌事項

タイトル別名

Polymorphisms of vitamin D binding protein gene and diseases
ビタミンD結合タンパク質の遺伝子多型と疾患
ビタミン D ケツゴウタンパクシツノイデンシタケイトシッカン

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説明

Vitamin D binding protein (DBP), which is also known as a group-specific component (GC)-globulin, is a major plasma carrier protein for vitamin D and its metabolites. DBP is also known as an actin scavenger and a precursor of GC protein-derived macrophage activating factor (GC-MAF). This multifunction protein plays a role in the determination of serum 25-hydroxyvitamin D levels and regulation of the immune system. Therefore, genetic variants of DBP may affect risks of various diseases related with vitamin D levels and the immune system. Until now, various protein and genetic polymorphisms of DBP have been identified. Especially, Gc1S, Gc1F and Gc2 are well-known polymorphisms characterized by isoelectrophoresis, which are derived from two missense variants of DBP gene encoding D432E (rs7041) and T436K (rs4588). In this review, we discuss some relationships between DBP genotypes and common disease risk including osteoporosis, cancer and diabetes.

収録刊行物

ビタミン

ビタミン 87 (9), 506-513, 2013

公益社団法人日本ビタミン学会

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詳細情報詳細情報について

CRID: 1390282680677288320

NII論文ID: 110009636191

NII書誌ID: AN00207833

DOI: 10.20632/vso.87.9_506

ISSN: 2424080X; 0006386X

NDL書誌ID: 024898096

Web Site: http://id.ndl.go.jp/bib/024898096; https://ndlsearch.ndl.go.jp/books/R000000004-I024898096; https://search.jamas.or.jp/link/ui/2014024231

本文言語コード: ja

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