The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Genetics and biology of vitamin D receptor polymorphisms
Open accessAbstract
The vitamin D endocrine system is involved in a wide variety of biological processes including bone metabolism, modulation of the immune response, and regulation of cell proliferation and differentiation. Variations in this endocrine system have, thus, been linked to several common diseases, including osteoarthritis (OA), diabetes, cancer, cardiovascular disease, and tuberculosis. Evidence to support this pleiotropic character of vitamin D has included epidemiological studies on circulating vitamin D hormone levels, but also genetic epidemiological studies. Genetic studies provide excellent opportunities to link molecular insights with epidemiological data and have therefore gained much interest. DNA sequence variations, which occur frequently in the population, are referred to as "polymorphisms" and can have modest and subtle but true biological effects. Their abundance in the human genome as well as their high frequencies in the human population have made them targets to explain variation in risk of common diseases. Recent studies have indicated many polymorphisms to exist in the vitamin D receptor (VDR) gene, but the influence of VDR gene polymorphisms on VDR protein function and signaling is largely unknown. So far, three adjacent restriction fragment length polymorphisms for BsmI, ApaI, and TaqI, respectively, at the 3' end of the VDR gene have been the most frequently studied. Because these polymorphisms are probably nonfunctional, linkage disequilibrium with one or more truly functional polymorphisms elsewhere in the VDR gene is assumed to explain the associations observed. Research is therefore focussed on documenting additional polymorphisms across the VDR gene to verify this hypothesis and on trying to understand the functional consequences of the variations. Substantial progress has been made that will deepen our understanding of variability in the vitamin D endocrine system and might find applications in risk assessment of disease and in predicting response-to-treatment.
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The Structure of Haplotype Blocks in the Human Genome
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VDR gene variants associate with cognitive function and depressive symptoms in old age
Kuningas, M., Mooijaart, S. P., Jolles, J., Slagboom, P. E., Westendorp, R. G. J., & van Heemst, D. (2009) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2007.07.001 · Cited by 149
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Giwa, A. M., Ahmed, R., Omidian, Z., Majety, N., Karakus, K. E., Omer, S. M., Donner, T., & Hamad, A. R. A. (2020) · World Journal of Diabetes · doi:10.4239/wjd.v11.i1.13 · Cited by 137
Slominski, A. T., Brożyna, A. A., Zmijewski, M. A., Jóźwicki, W., Jetten, A. M., Mason, R. S., Tuckey, R. C., & Elmets, C. A. (2017) · Laboratory Investigation · doi:10.1038/labinvest.2017.3 · Cited by 136
The renin–angiotensin–aldosterone system and calcium-regulatory hormones
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Parekh, D., Sarathi, V., Shivane, V. K., Bandgar, T. R., Menon, P. S., & Shah, N. S. (2010) · Endocrine Practice · doi:10.4158/ep09300.or · Cited by 78
Vaidya, A., Sun, B., Forman, J. P., Hopkins, P. N., Brown, N. J., Kolatkar, N. S., Williams, G. H., & Williams, J. S. (2011) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2011.03991.x · Cited by 58
Teplyuk, N. M., Zhang, Y., Lou, Y., Hawse, J. R., Hassan, M. Q., Teplyuk, V. I., Pratap, J., Galindo, M., Stein, J. L., Stein, G. S., et al. (2009) · Molecular Endocrinology · doi:10.1210/me.2008-0270 · Cited by 52
Jones, P., Lucock, M., Veysey, M., & Beckett, E. (2018) · Nutrients · doi:10.3390/nu10050554 · Cited by 52
Vitamin D status and risk for malignant cutaneous melanoma: recent advances
Ombra, M. N., Paliogiannis, P., Doneddu, V., Sini, M. C., Colombino, M., Rozzo, C., Stanganelli, I., Tanda, F., Cossu, A., & Palmieri, G. (2017) · European Journal of Cancer Prevention · doi:10.1097/cej.0000000000000334 · Cited by 39
Ogbah, Z., Visa, L., Badenas, C., Ríos, J., Puig-Butille, J. A., Bonifaci, N., Guino, E., Augé, J. M., Kolm, I., Carrera, C., et al. (2013) · BMC Medical Genetics · doi:10.1186/1471-2350-14-26 · Cited by 28
Metadata
- Authors
- Uitterlinden, A. G., Fang, Y., van Meurs, J. B. J., Pols, H. A. P., & van Leeuwen, J. P. T. M.
- Venue
- Gene
- Publisher
- Elsevier BV
- Published
- 2004-09
- Volume
- 338
- Issue
- 2
- Pages
- 143-156
- ISSN
- 0378-1119 (ISSN-L)
- OpenAlex
- W2120241921
- Cited by
- 1,539
- References
- 2
- FWCI
- 17.97
- Type
- journal article
- Language
- en
- Open access
- green
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