dc.contributor.author |
Szili, Balázs |
|
dc.contributor.author |
Szabó, Boglárka |
|
dc.contributor.author |
Horváth, P |
|
dc.contributor.author |
Bakos, Bence |
|
dc.contributor.author |
Kirschner, G |
|
dc.contributor.author |
Kósa, János |
|
dc.contributor.author |
Salamonné Toldy, Erzsébet |
|
dc.contributor.author |
Putz, Zsuzsanna |
|
dc.contributor.author |
Lakatos, Péter |
|
dc.contributor.author |
Tabák, Ádám |
|
dc.contributor.author |
Takács, István |
|
dc.date.accessioned |
2020-03-18T09:58:18Z |
|
dc.date.available |
2020-03-18T09:58:18Z |
|
dc.date.issued |
2018 |
|
dc.identifier |
85047751287 |
|
dc.identifier.citation |
journalVolume=183;journalTitle=JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY;pagerange=62-67;journalAbbreviatedTitle=J STEROID BIOCHEM MOL BIOL; |
|
dc.identifier.uri |
http://repo.lib.semmelweis.hu//handle/123456789/7203 |
|
dc.identifier.uri |
doi:10.1016/j.jsbmb.2018.05.007 |
|
dc.description.abstract |
Serum 25-hydroxyvitamin D/250HD/ 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 250HD levels have been shown, the magnitude of this association has not yet been clarified. The present study evaluates the genetic contribution to total- /t-250HD/ and free-250HD /f-250HD/ 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-250HD levels. More than half of the genetic effect on t-250HD 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-250HD levels. Unexpectedly, SNPs that showed univariate associations with vitamin D binding protein (DBP) levels were not associated with f-250HD levels questioning the biological significance of these polymorphisms. The present study shows that t-250HD levels are significantly influenced by genetic factors, however, the clinical significance of this observation remains to be defined, as variation in f-250HD levels are marginally explained by genetic effects. |
|
dc.format.extent |
62-67 |
|
dc.relation.ispartof |
urn:issn:0960-0760 |
|
dc.title |
Impact of genetic influence on serum total- and free 25-hydroxyvitamin-D in humans |
|
dc.type |
Journal Article |
|
dc.date.updated |
2019-07-08T13:23:09Z |
|
dc.language.rfc3066 |
en |
|
dc.rights.holder |
NULL |
|
dc.identifier.mtmt |
3384587 |
|
dc.identifier.wos |
000445714300007 |
|
dc.identifier.pubmed |
29792983 |
|
dc.contributor.department |
SE/AOK/K/I. Sz. Belgyógyászati Klinika |
|
dc.contributor.institution |
Semmelweis Egyetem |
|
dc.mtmt.swordnote |
Tabák Á and Takács I contributed equally. |
|