Szili, B;
Szabó, B;
Horváth, P;
Bakos, B;
Kirschner, G;
Kósa, JP;
Toldy, E;
... Takács, I; + view all
(2018)
Impact of genetic influence on serum total-and free 25-hydroxyvitamin-D in humans.
The Journal of Steroid Biochemistry and Molecular Biology
, 183
pp. 62-67.
10.1016/j.jsbmb.2018.05.007.
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Abstract
Serum 25-hydroxyvitamin D /25OHD/ levels in humans are determined primarily by environmental factors such as UV-B radiation and diet, including vitamin D intake. Although some genetic determinants of 25OHD levels have been shown, the magnitude of this association has not yet been clarified. The present study evaluates the genetic contribution to total- /t-25OHD/ and free-25OHD /f-25OHD/ in a representative sample of the Hungarian population (n = 462). The study was performed at the end of winter to minimize the effect of sunlight, which is a major determinant of serum vitamin D levels. Single nucleotide polymorphisms (SNPs) of five genes playing major roles in vitamin D metabolism were investigated (NADSYN1, DHCR7, GC, CYP2R1 and CYP24A1). The selected SNPs account for 13.1% of the variance of t-25OHD levels. More than half of the genetic effect on t-25OHD levels was explained by two polymorphisms (rs7935125 in NADSYN1 and rs2762941 in CYP24A1), which had not previously been investigated with respect to vitamin D metabolism. No SNPs exhibited association with f-25OHD levels. Unexpectedly, SNPs that showed univariate associations with vitamin D binding protein (DBP) levels were not associated with f-25OHD levels questioning the biological significance of these polymorphisms. The present study shows that t-25OHD levels are significantly influenced by genetic factors, however, the clinical significance of this observation remains to be defined, as variation in f-25OHD levels are marginally explained by genetic effects.
| Type: | Article |
|---|---|
| Title: | Impact of genetic influence on serum total-and free 25-hydroxyvitamin-D in humans |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.jsbmb.2018.05.007 |
| Publisher version: | https://doi.org/10.1016/j.jsbmb.2018.05.007 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Epidemiology/general population studies, Genetic research/human association studies, Diseases and disorders of/related to bone/other-vitamin D deficiency |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Epidemiology and Health > Epidemiology and Public Health |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10058476 |
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