Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.

Environmental factors such as diet, intake of vitamin D supplements and exposure to sunlight are known to influence serum vitamin D concentrations. Genetic epidemiology of vitamin D is in its infancy and a better understanding on how genetic variation influences vitamin D concentration is needed. We...

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Autores principales:	Janna Nissen, Lone Banke Rasmussen, Gitte Ravn-Haren, Elisabeth Wreford Andersen, Bettina Hansen, Rikke Andersen, Heddie Mejborn, Katja Howarth Madsen, Ulla Vogel
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2014
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/9a1e3a7ab84f4b31ab1ef5ae7d28bbd9
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spelling	oai:doaj.org-article:9a1e3a7ab84f4b31ab1ef5ae7d28bbd92021-11-18T08:30:42ZCommon variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.1932-620310.1371/journal.pone.0089907https://doaj.org/article/9a1e3a7ab84f4b31ab1ef5ae7d28bbd92014-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24587115/?tool=EBIhttps://doaj.org/toc/1932-6203Environmental factors such as diet, intake of vitamin D supplements and exposure to sunlight are known to influence serum vitamin D concentrations. Genetic epidemiology of vitamin D is in its infancy and a better understanding on how genetic variation influences vitamin D concentration is needed. We aimed to analyse previously reported vitamin D-related polymorphisms in relation to serum 25(OH)D concentrations in 201 healthy Danish families with dependent children in late summer in Denmark. Serum 25(OH)D concentrations and a total of 25 SNPs in GC, VDR, CYP2R1, CYP24A1, CYP27B1, C10or88 and DHCR7/NADSYN1 genes were analysed in 758 participants. Genotype distributions were in Hardy-Weinberg equilibrium for the adult population for all the studied polymorphisms. Four SNPs in CYP2R1 (rs1562902, rs7116978, rs10741657 and rs10766197) and six SNPs in GC (rs4588, rs842999, rs2282679, rs12512631, rs16846876 and rs17467825) were statistically significantly associated with serum 25(OH)D concentrations in children, adults and all combined. Several of the SNPs were in strong linkage disequilibrium, and the associations were driven by CYP2R1-rs10741657 and rs10766197, and by GC-rs4588 and rs842999. Genetic risk score analysis showed that carriers with no risk alleles of CYP2R1-rs10741657 and rs10766197, and/or GC rs4588 and rs842999 had significantly higher serum 25(OH)D concentrations compared to carriers of all risk alleles. To conclude, our results provide supporting evidence that common polymorphisms in GC and CYP2R1 are associated with serum 25(OH)D concentrations in the Caucasian population and that certain haplotypes may predispose to lower 25(OH)D concentrations in late summer in Denmark.Janna NissenLone Banke RasmussenGitte Ravn-HarenElisabeth Wreford AndersenBettina HansenRikke AndersenHeddie MejbornKatja Howarth MadsenUlla VogelPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 9, Iss 2, p e89907 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Janna Nissen Lone Banke Rasmussen Gitte Ravn-Haren Elisabeth Wreford Andersen Bettina Hansen Rikke Andersen Heddie Mejborn Katja Howarth Madsen Ulla Vogel Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.
description	Environmental factors such as diet, intake of vitamin D supplements and exposure to sunlight are known to influence serum vitamin D concentrations. Genetic epidemiology of vitamin D is in its infancy and a better understanding on how genetic variation influences vitamin D concentration is needed. We aimed to analyse previously reported vitamin D-related polymorphisms in relation to serum 25(OH)D concentrations in 201 healthy Danish families with dependent children in late summer in Denmark. Serum 25(OH)D concentrations and a total of 25 SNPs in GC, VDR, CYP2R1, CYP24A1, CYP27B1, C10or88 and DHCR7/NADSYN1 genes were analysed in 758 participants. Genotype distributions were in Hardy-Weinberg equilibrium for the adult population for all the studied polymorphisms. Four SNPs in CYP2R1 (rs1562902, rs7116978, rs10741657 and rs10766197) and six SNPs in GC (rs4588, rs842999, rs2282679, rs12512631, rs16846876 and rs17467825) were statistically significantly associated with serum 25(OH)D concentrations in children, adults and all combined. Several of the SNPs were in strong linkage disequilibrium, and the associations were driven by CYP2R1-rs10741657 and rs10766197, and by GC-rs4588 and rs842999. Genetic risk score analysis showed that carriers with no risk alleles of CYP2R1-rs10741657 and rs10766197, and/or GC rs4588 and rs842999 had significantly higher serum 25(OH)D concentrations compared to carriers of all risk alleles. To conclude, our results provide supporting evidence that common polymorphisms in GC and CYP2R1 are associated with serum 25(OH)D concentrations in the Caucasian population and that certain haplotypes may predispose to lower 25(OH)D concentrations in late summer in Denmark.
format	article
author	Janna Nissen Lone Banke Rasmussen Gitte Ravn-Haren Elisabeth Wreford Andersen Bettina Hansen Rikke Andersen Heddie Mejborn Katja Howarth Madsen Ulla Vogel
author_facet	Janna Nissen Lone Banke Rasmussen Gitte Ravn-Haren Elisabeth Wreford Andersen Bettina Hansen Rikke Andersen Heddie Mejborn Katja Howarth Madsen Ulla Vogel
author_sort	Janna Nissen
title	Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.
title_short	Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.
title_full	Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.
title_fullStr	Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.
title_full_unstemmed	Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.
title_sort	common variants in cyp2r1 and gc genes predict vitamin d concentrations in healthy danish children and adults.
publisher	Public Library of Science (PLoS)
publishDate	2014
url	https://doaj.org/article/9a1e3a7ab84f4b31ab1ef5ae7d28bbd9
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Common variants in CYP2R1 and GC genes predict vitamin D concentrations in healthy Danish children and adults.

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