A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations

McGrath, John J., Saha, Sukanta, Burne, Thomas H.J. and Eyles, Darryl W. (2010). A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations. In: Proceedings of the 14th Vitamin D Workshop. 14th Workshop on Vitamin D, Brugge, Belgiun, (471-477). 4-8 October, 2009. doi:10.1016/j.jsbmb.2010.03.073

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Author McGrath, John J.
Saha, Sukanta
Burne, Thomas H.J.
Eyles, Darryl W.
Title of paper A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations
Conference name 14th Workshop on Vitamin D
Conference location Brugge, Belgiun
Conference dates 4-8 October, 2009
Convener PA International Foundation
Proceedings title Proceedings of the 14th Vitamin D Workshop   Check publisher's open access policy
Journal name The Journal of Steroid Biochemistry and Molecular Biology   Check publisher's open access policy
Place of Publication Oxford, England
Publisher Pergamon Press
Publication Year 2010
Sub-type Fully published paper
DOI 10.1016/j.jsbmb.2010.03.073
ISSN 0960-0760
Volume 121
Issue 1-2
Start page 471
End page 477
Total pages 6
Collection year 2011
Language eng
Abstract/Summary In order to appreciate the association between hypovitaminosis D and various adverse health outcomes, we require a thorough understanding of how common single nucleotide polymorphisms (SNPs) influence serum concentrations of 25-hydroxyvitamin D (25OHD). We undertook a systematic review of the literature in order to identify studies that examined 25OHD concentrations, and common SNPs. We found nine studies related to the vitamin D binding protein (group-specific component, GC), and five studies examining the vitamin D receptor (VDR). SNPs in a range of cytochrome P450 enzymes have also been examined in seven studies. Replicated findings have been found between 25OHD concentrations and (a) two SNPs in GC (rs4588, rs7041), (b) one SNP in VDR (rs10735810), and (c) one SNP in CYP27B1 (rs10877012). In light of these associations, it is feasible that optimal concentrations of 25OHD required to reduce disease outcomes may vary according to genotype. We speculate that recently identified U-shaped relationships between 25OHD concentrations and disease outcomes (i.e. increased risk at both high and low concentrations) may reflect a mixture of genotype-defined subgroups. Further research is required in order to clarify the genetic architecture underlying 25OHD serum concentrations, and to unravel the mechanisms of action responsible for these associations.
Subjects E1
1103 Clinical Sciences
Keyword Vitamin D
25-Hydroxyvitamin D
Single nucleotide polymorphisms
Genome-wide association study
Genetics
D-Binding Protein
Vitamin-d-receptor
Prostate-cancer Risk
Postmenopausal Breast-cancer
Human Mammary Cells
Multiple-sclerosis
Gene Polymorphisms
Mediated Endocytosis
Affinity Differences
Calcium-absorption
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Conference Paper
Collections: Official 2011 Collection
Queensland Brain Institute Publications
 
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Created: Sun, 22 Aug 2010, 00:06:23 EST