The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Common genetic determinants of vitamin D insufficiency: a genome-wide association study
Open accessAbstract
Background Vitamin D is crucial for maintaining musculoskeletal health. Recently, vitamin D insufficiency has been linked to a number of extraskeletal disorders, including diabetes, cancer, and cardiovascular disease. Determinants of circulating 25-hydroxyvitamin D (25-OH D) include sun exposure and dietary intake, but its high heritability suggests that genetic determinants may also play a role. Methods We performed a genome-wide association study of 25-OH D among ∼30,000 individuals of European descent from 15 cohorts. Five cohorts were designated as discovery cohorts (n=16,125), five as in silico replication cohorts (n=9,366), and five as de novo replication cohorts (n=8,378). Association results were combined using z-score-weighted meta-analysis. Vitamin D insufficiency was defined as 25-OH D <75 nmol/L or <50 nmol/L. Findings Variants at three loci reached genome-wide significance in the discovery cohorts, and were confirmed in the replication cohorts: 4p12 (overall P=1.9 × 10-109 for rs2282679, in GC); 11q12 (P=2.1 × 10-27 for rs12785878, near DHCR7); 11p15 (P=3.3 × 10-20 for rs10741657, near CYP2R1). Variants at an additional locus (20q13, CYP24A1) were genome-wide significant in the pooled sample (P=6.0 × 10-10 for rs6013897). A genotype score was constructed using the three confirmed variants. Those in the top quartile of genotype scores had 2- to 2.5-fold elevated odds of vitamin D insufficiency (P≤1 × 10-26). Interpretation Variants near genes involved in cholesterol synthesis (DHCR7), hydroxylation (CYP2R1, CYP24A1), and vitamin D transport (GC) influence vitamin D status. Genetic variation at these loci identifies individuals of European descent who have substantially elevated risk of vitamin D insufficiency.
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Holick, M. F. (2007) · New England Journal of Medicine · doi:10.1056/nejmra070553 · Cited by 13,720
Autier, P. (2007) · Archives of Internal Medicine · doi:10.1001/archinte.167.16.1730 · Cited by 1,104
Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome
Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S., & Salen, G. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300205 · Cited by 798
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Vitamin D for health: a global perspective
Hossein-nezhad, A., & Holick, M. F. (2013) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2013.05.011 · Cited by 1,298
Vitamin D–Binding Protein and Vitamin D Status of Black Americans and White Americans
Powe, C. E., Evans, M. K., Wenger, J., Zonderman, A. B., Berg, A. H., Nalls, M., Tamez, H., Zhang, D., Bhan, I., Karumanchi, S. A., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306357 · Cited by 1,087
Vimaleswaran, K. S., Berry, D. J., Lu, C., Tikkanen, E., Pilz, S., Hiraki, L. T., Cooper, J. D., Dastani, Z., Li, R., Houston, D. K., et al. (2013) · PLoS Medicine · doi:10.1371/journal.pmed.1001383 · Cited by 1,046
Self-citationThe health effects of vitamin D supplementation: Evidence from human studies
Bouillon, R., Manousaki, D., Rosen, C., Trajanoska, K., Rivadeneira, F., & Richards, J. B. (2022) · Nature Reviews Endocrinology · doi:10.1038/s41574-021-00593-z · Cited by 535
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- Authors
- Wang, T. J., Zhang, F., Richards, J. B., Kestenbaum, B., van Meurs, J. B., Berry, D., Kiel, D. P., Streeten, E. A., Ohlsson, C., Koller, D. L., Peltonen, L., Cooper, J. D., O'Reilly, P. F., Houston, D. K., Glazer, N. L., Vandenput, L., Peacock, M., Shi, J., Rivadeneira, F., McCarthy, M. I., Anneli, P., de Boer, I. H., Mangino, M., Kato, B., Smyth, D. J., Booth, S. L., Jacques, P. F., Burke, G. L., Goodarzi, M., Cheung, C.-L., Wolf, M., Rice, K., Goltzman, D., Hidiroglou, N., Ladouceur, M., Wareham, N. J., Hocking, L. J., Hart, D., Arden, N. K., Cooper, C., Malik, S., Fraser, W. D., Hartikainen, A.-L., Zhai, G., Macdonald, H. M., Forouhi, N. G., Loos, R. J., Reid, D. M., Hakim, A., Dennison, E., Liu, Y., Power, C., Stevens, H. E., Jaana, L., Vasan, R. S., Soranzo, N., Bojunga, J., Psaty, B. M., Lorentzon, M., Foroud, T., Harris, T. B., Hofman, A., Jansson, J.-O., Cauley, J. A., Uitterlinden, A. G., Gibson, Q., Järvelin, M.-R., Karasik, D., Siscovick, D. S., Econs, M. J., Kritchevsky, S. B., Florez, J. C., Todd, J. A., Dupuis, J., Hyppönen, E., & Spector, T. D.
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2010-07
- Volume
- 376
- Issue
- 9736
- Pages
- 180-188
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2162258804
- Cited by
- 1,540
- References
- 3
- FWCI
- 73.46
- Type
- journal article
- Language
- en
- Open access
- green
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- Wang, T. J., Zhang, F., Richards, J. B., Kestenbaum, B., van Meurs, J. B., Berry, D., Kiel, D. P., Streeten, E. A., Ohlsson, C., Koller, D. L., Peltonen, L., Cooper, J. D., O'Reilly, P. F., Houston, D. K., Glazer, N. L., Vandenput, L., Peacock, M., Shi, J., Rivadeneira, F., . . . Spector, T. D. (2010). Common genetic determinants of vitamin D insufficiency: a genome-wide association study. The Lancet. https://doi.org/10.1016/s0140-6736(10)60588-0
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