期刊
CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
卷 20, 期 4, 页码 331-336出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MNH.0b013e328346d6ba
关键词
genes; 25-hdyroxyvitamin D; metabolism; vitamin D
资金
- UK Medical Research Council [G0601653]
- British Heart Foundation
- Biotechnology and Biological Sciences Research Council (UK)
- Academy of Finland
- MRC Centre of Epidemiology for Child Health
- NHS Executive
- Medical Research Council [G0400546B, G0400546, G0601653] Funding Source: researchfish
- National Institute for Health Research [PHCS/C4/4/016] Funding Source: researchfish
- MRC [G0400546, G0601653] Funding Source: UKRI
Purpose of review The role of vitamin D beyond its importance for bone health is under much debate. In this article, we review recent evidence for genetic influences on 25-hydroxyvitamin D [25(OH)D] and discuss the uses of this information and its importance for public health. Recent findings Findings from large-scale genome-wide association meta-analyses on 25(OH)D confirmed the associations for loci nearby genes encoding vitamin D binding protein (GC, group component), 7-dehydrochlesterol reductase (DHCR7), 25-hydroxylase (CYP2R1) and 24-hydroxylase (CYP24A1), all influencing key sites for vitamin D metabolism. Findings from candidate gene studies have been inconsistent, with some implicating an association with 25(OH)D for loci near the gene encoding the hormonal vitamin D activation enzyme (CYP27B1). Summary The amount of variation in 25(OH)D explained by genetic determinants is small compared with environmental exposures. Information on genetic variants affecting 25(OH)D can be used as tools for Mendelian randomization analyses on vitamin D, and they provide some potential for the use as drug targets.
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