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Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels
Open accessAbstract
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 = 4.7×10−9 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.
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Metadata
- Authors
- Jiang, X., O’Reilly, P. F., Aschard, H., Hsu, Y.-H., Richards, J. B., Dupuis, J., Ingelsson, E., Karasik, D., Pilz, S., Berry, D., Kestenbaum, B., Zheng, J., Luan, J., Sofianopoulou, E., Streeten, E. A., Albanes, D., Lutsey, P. L., Yao, L., Tang, W., Econs, M. J., Wallaschofski, H., Völzke, H., Zhou, A., Power, C., McCarthy, M. I., Michos, E. D., Boerwinkle, E., Weinstein, S. J., Freedman, N. D., Huang, W.-Y., Van Schoor, N. M., van der Velde, N., Groot, L. C. P. G. M. D., Enneman, A., Cupples, L. A., Booth, S. L., Vasan, R. S., Liu, C.-T., Zhou, Y., Ripatti, S., Ohlsson, C., Vandenput, L., Lorentzon, M., Eriksson, J. G., Shea, M. K., Houston, D. K., Kritchevsky, S. B., Liu, Y., Lohman, K. K., Ferrucci, L., Peacock, M., Gieger, C., Beekman, M., Slagboom, E., Deelen, J., Heemst, D. V., Kleber, M. E., März, W., de Boer, I. H., Wood, A. C., Rotter, J. I., Rich, S. S., Robinson-Cohen, C., den Heijer, M., Jarvelin, M.-R., Cavadino, A., Joshi, P. K., Wilson, J. F., Hayward, C., Lind, L., Michaëlsson, K., Trompet, S., Zillikens, M. C., Uitterlinden, A. G., Rivadeneira, F., Broer, L., Zgaga, L., Campbell, H., Theodoratou, E., Farrington, S. M., Timofeeva, M., Dunlop, M. G., Valdes, A. M., Tikkanen, E., Lehtimäki, T., Lyytikäinen, L.-P., Kähönen, M., Raitakari, O. T., Mikkilä, V., Ikram, M. A., Sattar, N., Jukema, J. W., Wareham, N. J., Langenberg, C., Forouhi, N. G., Gundersen, T. E., Khaw, K.-T., Butterworth, A. S., Danesh, J., Spector, T., Wang, T. J., Hyppönen, E., Kraft, P., & Kiel, D. P.
- Venue
- Nature Communications
- Published
- 2018-01-17
- Volume
- 9
- Issue
- 1
- Pages
- 260-260
- ISSN
- 2041-1723 (ISSN-L)
- OpenAlex
- W2783489228
- Cited by
- 385
- References
- 22
- FWCI
- 25.13
- Type
- journal article
- Language
- en
- Open access
- gold
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