Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

doi:10.1038/s41467-019-12655-y

GSTDTAP > 资源环境科学

DOI	10.1038/s41467-019-12655-y
	Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels
	Jiang, Xia 1; 39;Reilly, Paul F.2
	2019-10-10
发表期刊	NATURE COMMUNICATIONS
ISSN	2041-1723
出版年	2018
卷号	9
文章类型	Article
语种	英语
国家	USA; Sweden; England; France; Canada; Austria; Germany; Australia; Netherlands; Finland; Scotland; Ireland; Norway
英文摘要	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.
领域	资源环境
收录类别	SCI-E
WOS记录号	WOS:000422650500011
WOS关键词	VITAMIN-D LEVELS ; LENTICULO-SUTURAL DYSPLASIA ; PARTITIONING HERITABILITY ; MULTIPLE-SCLEROSIS ; ADOLESCENT TWINS ; CELL-TYPES ; RISK LOCI ; VARIANTS ; DISEASE ; METAANALYSIS
WOS类目	Multidisciplinary Sciences
WOS研究方向	Science & Technology - Other Topics
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引用统计
文献类型	期刊论文
条目标识符	http://119.78.100.173/C666/handle/2XK7JSWQ/204586
专题	资源环境科学
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推荐引用方式 GB/T 7714	Jiang, Xia,39;Reilly, Paul F.. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels[J]. NATURE COMMUNICATIONS,2019,9.
APA	Jiang, Xia,&39;Reilly, Paul F..(2019).Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.NATURE COMMUNICATIONS,9.
MLA	Jiang, Xia,et al."Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels".NATURE COMMUNICATIONS 9(2019).