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dc.contributor.authorJiang, X.
dc.contributor.authorO'Reilly, P.F.
dc.contributor.authorAschard, H.
dc.date.accessioned2019-06-21T18:46:34Z
dc.date.available2019-06-21T18:46:34Z
dc.date.issued2018
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85041401774&doi=10.1038%2fs41467-017-02662-2&partnerID=40&md5=6c7e7becd8abb88179d1aba76bf39d46
dc.identifier.urihttp://hdl.handle.net/10713/9794
dc.description.abstractVitamin D is a steroid hormone precursor that is associated with a range of human traits and diseases. Previous GWAS of serum 25-hydroxyvitamin D concentrations have identified four genome-wide significant loci (GC, NADSYN1/DHCR7, CYP2R1, CYP24A1). In this study, we expand the previous SUNLIGHT Consortium GWAS discovery sample size from 16,125 to 79,366 (all European descent). This larger GWAS yields two additional loci harboring genome-wide significant variants (P = 4.7×10−9 at rs8018720 in SEC23A, and P = 1.9×10−14 at rs10745742 in AMDHD1). The overall estimate of heritability of 25-hydroxyvitamin D serum concentrations attributable to GWAS common SNPs is 7.5%, with statistically significant loci explaining 38% of this total. Further investigation identifies signal enrichment in immune and hematopoietic tissues, and clustering with autoimmune diseases in cell-type-specific analysis. Larger studies are required to identify additional common SNPs, and to explore the role of rare or structural variants and gene–gene interactions in the heritability of circulating 25-hydroxyvitamin D levels. Copyright 2018 The Author(s).en_US
dc.description.urihttps://dx.doi.org/10.1038/s41467-017-02662-2en_US
dc.language.isoen-USen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofNature Communications
dc.subjectAmidohydrolasesen_US
dc.subjectAutoimmune Diseasesen_US
dc.subjectCohort Studiesen_US
dc.subjectEuropean Continental Ancestry Groupen_US
dc.subjectFemaleen_US
dc.subjectGenome-Wide Association Studyen_US
dc.subjectMaleen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectVesicular Transport Proteinsen_US
dc.subjectVitamin Den_US
dc.titleGenome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levelsen_US
dc.typeArticleen_US
dc.identifier.doi10.1038/s41467-017-02662-2
dc.identifier.pmid29343764


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