Vitamin D receptor, polymorphisms

Wood RJ and Fleet JC (1998) The genetics of osteoporosis vitamin D receptor polymorphisms. AnnMfl/iJew emso/AlMft Jft ow 18, 233-58. 

WileyJS, Dao-Ung LP, Li C et al 2003 An Ile-568 to Asn polymorphism prevents normal trafficking and function of the human P2X7 receptor. J Biol Chem 278 17108—17113 Wilkinson RJ, Llewelyn M, Toossi Z et al 2000 Influence of vitamin D deficiency and vitamin D receptor polymorphisms on tuberculosis among Gujarati Asians in west London a case-control study. Lancet 355 618-621... 

Lucotte G, Mercier G, Burckel A. The vitamin D receptor FokI start codon polymorphism and bone mineral density in osteoporotic postmenopausal French women. Clin Genet 1999 56[3] 221 224. 

Saint J. Van Tomout JM, Loro ML, Sayre J, Roe TF, Gilsanz V. Vitamin D-receptor gene polymorphisms and bone density in prepubertal American girls of Mexican descent. New England Journal of Medicine 1997 337 7782. 

Race and genetic factors [e.g., FOKl gene polymorphism of the vitamin D receptor (VDR)]... 

Abrams, S. A., Griffin, I. J., Hawthorne, K. M., Chen, Z., Gunn, S. K., Wilde, M., Darlington, G., Shypailo, R. J., and Ellis, K. J. (2005a). Vitamin D receptor Fokl polymorphisms affect calcium absorption, kinetics, and bone mineralization rates during puberty. JBMR 20, 945-953. 

Ames, S., Ellis, K., Gurm, S., Copeland, K., and Abrams, S. (1999). Vitamin D receptor gene Fokl polymorphism predicts calcium absorption and bone mineral density in children. JBMR 14, 740-746. 

Keen R, Egger P, Fall C, Major P, Lanchbury J, Spector TD, Cooper C (1997) Polymorphisms of the vitamin D receptor, infant growth, and adult bone mass. Calcif Tissue Int, 60 233-235. 

R. A. and Matthews, B.W., Type II restriction endonucleases structural, functional, and evolutionary relationships, Curr. Opin. Chem. Biol. 3, 578-583, 1999 Akar, A., Orkunoglu, F.E., Ozata, M., Sengul, A., and Gur, A.R., Lack of association between vitamin D receptor Fokl polymorphism and alopecia areata, Eur. J. Dermatol. 14, 156-158, 2004 Guy, M., Lowe, L.C., Bretherton-Watt, D. et al., Vitamin D receptor gene polymorphisms and breast cancer risk, Clin. Cancer Res. 10, 5472-5481, 2004 Claassen, M., Nouwen, J., Fang, Y. et al., Staphylococcus aureus nasal carriage is not associated with known polymorphism in the Vitamin D receptor gene, FEMS Immunol. Med. Microbiol. 43,173-176, 2005 Bolu,... 

Halmos, B., Szalay, F., Cserniczky, T., Nemesanszky, E., Lakatos, R, Barlage, S., Schmitz, G., Romics, L., Csaszar, A. Association of primary bihary cirrhosis with vitamin D receptor Bsml genotype polymorphism in a Hungarian population. Dig. Dis. Sci. 2000 45 1091-1095... 

Byung-Kook L, Lee G-S, Stewert WF, Kyu-Dong A, Simon D, Kelsey KT,Todd AC, Schwartz BS. Associations of blood pressure and hypertension with lead dose measures and polymorphisms in the vitamin D receptor and p-aminolevulinic acid dehydratase genes. Environ Health Perspectives 2001 109 383-389. 

J. Guardiola, X. Xiol, R. Sallie, et al. Influence of the vitamin D receptor gene polymorphism on bone loss in men after liver transplantation. Annals of Internal Medicine 131,752 (1999). 

Decreased serum calcium concentrations lead to increased serum PTH concentrations, which lead to elevated calcitriol concentrations (see Fig. 88-3). Calcitriol promotes intestinal calcium absorption, and calcitriol and PTH work together to release calcium from bone to restore homeostasis. Polymorphisms with the intestinal vitamin D receptor (Bsml, Apal, Taql, and Fokl) have been inconsistently... 

Uitterlinden AG, Fang Y, Bergink AP, et al. The role of vitamin D receptor gene polymorphisms in bone biology. Mol Cell Endocrinol 2002 197 15-21. 

Poggi M, Aterini S, Nicastro L, et al. 1999. Lack of association between body weight, bone mineral density and vitamin D receptor gene polymorphism in normal and osteoporotic women. Disease Markers 15(4) 221-227. 

At least three polymorphic genes have been identified that potentially can influence the bioaccumulation and toxicokinetics of lead in humans (1) the gene coding for 6-amino-levulinic acid dehydratase (ALAD) (2) the Vitamin D receptor (VDR) gene and (3) HFE, the gene for hereditary hemochromatosis (Onalaja et al. 2000). 

The vitamin D receptor (VDR) gene, located at chromosome 12cen-12 is involved in calcium absorption through the gut and into calcium-rich tissues such as bone. VDR may play a role in susceptibility to lead bioaccumulation (Schwartz etal. 2000). Most studies on the VDR gene have focused on the Bsml polymorphism, defined by the restriction enzyme Bsml (Tokita et al. 1996). This polymorphism results in three genotypes denoted bb when the restriction site is present, BB when it is absent, and Bb when both alleles are present. 

Schwartz BS, Lee B-K, Lee G-S, Stewart WF, Simon D, Kelsey K and Todd AC (2000) Association of blood lead, dimercaptosucdnic add-chelat-able lead, and tibia lead with polymorphism in the Vitamin D receptor and d-aminolemdinic acid dehydratase genes. Environ Health Perspect 108 949-954. 

Britton The tumour necrosis factor (TNF) pathway has been examined, but reduced TNF production or polymorphisms in the TNF gene have not been associated with TB. There is debate about the TNF promoter polymorphisms, but they haven t been particularly informative in either TB or leprosy. Activated vitamin D is produced by macrophages and activates macrophages to kill mycobacteria, and variants in the vitamin D receptor have been associated with susceptibility to TB and leprosy. 

Amyotrophic lateral sclerosis, lead, and genetic susceptibility polymorphism in in test delta-aminolevulinic acid dehydratase and vitamin D receptor genes. Environ. Health Perspect. 2003 111 1335-9. 

N, Aladag, D, Ozkan-Ariksoysal, D, Gezen-Ak, S, Yilmazer, and M, Ozsoz, An electrochemical DNA biosensor for the detection of the Apa I polymorphism in the vitamin D receptor gene using Meldola s blue as a hybridization indicator. Electroanalysis 22(5), 590-598 (2010),... 

Schwartz, B.S., B.K. Lee, G.S. Lee, W.F. Stewart, D. Simon, K.T. Kelsey, and A.C. Todd. 2000a. Associations of blood lead, dimercaptosuccinic acid-chelatable lead, and tibia lead with polymorphisms in the vitamin D receptor and [delta]-aminolevulinic acid dehydratase genes. Environ. Health Perspect. 108(10) 949-954. 

An additional study of the Korean cohort has explored possible effect modification of the relationship between occupational lead exposure and renal function. A polymorphism of the vitamin D receptor (the variant B allele) was found to worsen the association between lead exposure and renal function. And in those who had the ALAD allele, higher BLLs were associated with higher calculated creatinine clearance (Weaver et al. 2006). 

Kamel, F., D.M. Umbach, T.A. Lehman, L.P. Park, T.L. Munsat, J.M. Shefner, D.P. Sandler, H. Hu, and J.A. Taylor. 2003. Amyotrophic lateral sclerosis, lead and genetic susceptibility Polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes. Environ. Health Perspect. 111(10) 1335-1339. 

Weaver, V.M., B.K. Lee, A.C. Todd, K.D. Ahn, W. Shi, B.G. Jaar, K.T. Kelsey, M.E. Lustberg, E.K. Silbergeld, P.J. Parsons, J. Wen, and B.S. Schwartz. 2006. Effect modification by delta-aminolevulinic acid dehydratase, vitamin D receptor, and nitric oxide synthase gene polymorphisms on associations between patella lead and renal function in lead workers. Environ. Res. 102(l) 61-69. 

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