Association of Molecular Variants, Haplotypes, and Linkage Disequilibrium Within the Human <i>Vitamin D-Binding Protein</i> (<i>DBP</i>) Gene With Postmenopausal Bone Mineral Density

Ezura, Yoichi; Nakajima, Toshiaki; Kajita, Mitsuko; Ishida, Ryota; Inoue, Satoshi; Yoshida, Hideyo; Suzuki, Takao; Shiraki, Masataka; Hosoi, Takayuki; Orimo, Hajime; Emi, Mitsuru

doi:10.1359/jbmr.2003.18.9.1642

Cited by 43 publications

(29 citation statements)

References 34 publications

(80 reference statements)

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“…The CYP24A1 gene codes for 24(OH)ase, which degrades 1,25(OH) 2 D. The potential for the SNPs we examined to alter DBP or CYP24A1 function is possible but has not been studied. Some studies have suggested a relationship of these SNPs with other outcomes, including asthma, glucose tolerance, and bone mineral density [33-35]. We are not aware of any studies that examined these SNPs in relation to breast cancer.…”

Section: Discussionmentioning

confidence: 99%

Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study

et al. 2007

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Section: Discussionmentioning

confidence: 99%

Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study

et al. 2007

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“…While most studies have focused on the two major SNPs (rs7041 and rs4588) seen in Caucasians and people of African descent, Ezura et al examined 13 DBP polymorphisms in a cohort of 384 postmenopausal Japanese women [12]. Five of these variants were significantly associated with BMD; one of these SNPs (−39 C > T ) was found in the promoter region, while the remainder were intronic.…”

Section: Dbp Polymorphisms and Bone Healthmentioning

confidence: 99%

Vitamin D Binding Protein and Bone Health

Bhan

2014

International Journal of Endocrinology

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Vitamin D binding protein (DBP) is the major carrier protein of 25-hydroxyvitamin D (25(OH) D) in the circulation, where it may serve roles in maintaining stable levels during times of decreased 25(OH) availability and in regulating delivery of 25(OH) D to target tissues. Several genetic polymorphisms of DBP have been described that lead to phenotypic changes in the protein that may affect affinity, activity, and concentration. These polymorphisms have been linked with alterations in bone density in several populations. One of the mechanisms by which DBP may alter bone health involves regulating vitamin D bioavailability. DBP-bound vitamin is thought to be relatively unavailable to target tissues, and thus alterations in DBP levels or affinity could lead to changes in vitamin D bioactivity. As a result, functional vitamin D status may differ greatly between individuals with similar total 25(OH) D levels. Additionally, DBP may have independent roles on macrophage and osteoclast activation. This review will summarize recent findings about DBP with respect to measures of bone density and health.

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“…The DBP may also have a role in inflammation and the immune system (76). Ezura et al (38) characterized a C/T polymorphism at position −39 in the Gc promoter region that was strongly linked to bone mineral density. Kidd et al (73) identified two of three SNPs in the Gc promoter region with functional effects on transcription factor binding sites.…”

Section: Vitamin D-binding Protein (Gc)mentioning

confidence: 99%

Vitamin D Gene Pathway Polymorphisms and Risk of Colorectal, Breast, and Prostate Cancer

2009

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Higher vitamin D exposure is hypothesized to prevent several cancers, possibly through genomic effects modulated by the vitamin D receptor (VDR), and autocrine/paracrine metabolism of the VDR's ligand, 1alpha,25-(OH)(2)-vitamin D. Herein we review the background and evidence to date on associations between polymorphisms in VDR and selected genes in the vitamin D pathway in relation to colorectal, breast, and prostate cancer. Although most studies to date have examined only a few VDR polymorphisms, more are beginning to comprehensively investigate polymorphisms in the VDR as well as in other vitamin D pathway genes, such as the vitamin D-binding protein gene (Gc) and CYP27B1 and CYP24A1, which code for enzymes that, respectively, synthesize and degrade 1alpha,25-(OH)(2)-vitamin D. Currently, there is no strong, consistent epidemiologic evidence for substantial influences of single variants in vitamin D pathway genes on risk for colorectal, breast, or prostate cancer, but promising leads are developing.

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Association of Molecular Variants, Haplotypes, and Linkage Disequilibrium Within the Human Vitamin D-Binding Protein (DBP) Gene With Postmenopausal Bone Mineral Density

Cited by 43 publications

References 34 publications

Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study

Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study

Vitamin D Binding Protein and Bone Health

Vitamin D Gene Pathway Polymorphisms and Risk of Colorectal, Breast, and Prostate Cancer

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