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Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels
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| Veröffentlicht in: | Nature Communications 9(2018) Artikel-Nummer 260, 12 Seiten |
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| Personen und Körperschaften: | , , |
| Titel: | Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels/ Xia Jiang et al. |
| Format: | E-Book-Kapitel |
| Sprache: | Englisch |
| veröffentlicht: |
17 January 2018
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| Gesamtaufnahme: |
: Nature Communications, 9(2018) Artikel-Nummer 260, 12 Seiten
, volume:9 |
| Quelle: | Verbunddaten SWB Lizenzfreie Online-Ressourcen |
| Zusammenfassung: | Vitamin 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 = 4.7x10-9 at rs8018720 in SEC23A, and P = 1.9x10-14 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. |
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| Beschreibung: | Gesehen am 05.09.2019 |
| Umfang: | 12 |
| ISSN: |
2041-1723
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| DOI: | 10.1038/s41467-017-02662-2 |