Very important pharmacogene summary for VDR

Pharmacogenetics and Genomics

Volumn 22, Issue 10, 2012, Pages 758-763

  Poon, Audrey H ^a,g,h   Gong, Li ^e   Brasch Andersen, Charlotte ⁱ   Litonjua, Augusto A ^a,b,c   Raby, Benjamin A ^a,b   Hamid, Qutayba ^g   Laprise, Catherine ^h   Weiss, Scott T ^a,c,d   Altman, Russ B ^e,f   Klein, Teri E ^e  

^a CHANNING LABORATORY   (United States)

^b Division of Pulmonary and Critical Care Medicine   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d PARTNERS HEALTHCARE   (United States)

^e STANFORD UNIVERSITY   (United States)

^f Stanford University   (United States)

^g MCGILL UNIVERSITY   (Canada)

^h UNIVERSITÉ DU QUÉBEC À CHICOUTIMI   (Canada)

ⁱ ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

drug response; genetic variants; pharmacogenomics; vitamin D receptor

Indexed keywords

ALFACALCIDOL; ANTICONVULSIVE AGENT; CALCIPOTRIOL; DEXAMETHASONE; VITAMIN D RECEPTOR;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; BONE DENSITY; BREAST CANCER; EPILEPSY; GENETIC VARIABILITY; HUMAN; PHARMACOGENETICS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSORIASIS; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN D RECEPTOR GENE; VITAMIN SUPPLEMENTATION;

EID: 84866321560     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e328354455c     Document Type: Article

References (58)

1. Baker AR, McDonnell DP, Hughes M, Crisp TM, Mangelsdorf DJ, Haussler MR, et al. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci USA 1988; 85:3294-3298.
2. Miyamoto K, Kesterson RA, Yamamoto H, Taketani Y, Nishiwaki E, Tatsumi S, et al. Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol Endocrinol 1997; 11:1165-1179. (Pubitemid 27278838)
3. Crofts LA, Hancock MS, Morrison NA, Eisman JA. Multiple promoters direct the tissue-specific expression of novel N-terminal variant human vitamin D receptor gene transcripts. Proc Natl Acad Sci USA 1998; 95:10529-10534.
4. Gardiner EM, Esteban LM, Fong C, Allison SJ, Flanagan JL, Kouzmenko AP, et al. Vitamin D receptor B1 and exon 1d: functional and evolutionary analysis. J Steroid Biochem Mol Biol 2004; 89-90:233-238. (Pubitemid 38844288)
5. Hewison M. Vitamin D and the immune system: new perspectives on an old theme. Endocrinol Metab Clin North Am 2010; 39:365-379.
6. Plum LA, DeLuca HF. Vitamin D, disease and therapeutic opportunities. Nat Rev Drug Discov 2010; 9:941-955.
7. Bikle DD. Vitamin D: an ancient hormone. Exp Dermatol 2011; 20:7-13.
8. Bouillon R, Okamura WH, Norman AW. Structure-function relationships in the vitamin D endocrine system. Endocr Rev 1995; 16:200-257.
9. Nguyen M, Trubert CL, Rizk-Rabin M, Rehan VK, Besancon F, Cayre YE, et al. 1,25-Dihydroxyvitamin D3 and fetal lung maturation: immunogold detection of VDR expression in pneumocytes type II cells and effect on fructose 1,6 bisphosphatase. J Steroid Biochem Mol Biol 2004; 89-90:93-97. (Pubitemid 38844266)
10. Menezes RJ, Cheney RT, Husain A, Tretiakova M, Loewen G, Johnson CS, et al. Vitamin D receptor expression in normal, premalignant, and malignant human lung tissue. Cancer Epidemiol Biomarkers Prev 2008; 17:1104-1110.
11. Lin R, Nagai Y, Sladek R, Bastien Y, Ho J, Petrecca K, et al. Expression profiling in squamous carcinoma cells reveals pleiotropic effects of vitamin D3 analog EB1089 signaling on cell proliferation, differentiation, and immune system regulation. Mol Endocrinol 2002; 16:1243-1256. (Pubitemid 34621073)
12. Wood RJ, Tchack L, Angelo G, Pratt RE, Sonna LA. DNA microarray analysis of vitamin D-induced gene expression in a human colon carcinoma cell line. Physiol Genomics 2004; 17:122-129. (Pubitemid 38924158)
13. Wang TT, Tavera-Mendoza LE, Laperriere D, Libby E, MacLeod NB, Nagai Y, et al. Large-scale in silico and microarray-based identification of direct 1,25-dihydroxyvitamin D3 target genes. Mol Endocrinol 2005; 19:2685-2695. (Pubitemid 41577243)
14. Huhtakangas JA, Olivera CJ, Bishop JE, Zanello LP, Norman AW. The vitamin D receptor is present in caveolae-enriched plasma membranes and binds 1 alpha,25(OH)2-vitamin D3 in vivo and in vitro. Mol Endocrinol 2004; 18:2660-2671. (Pubitemid 39482056)
15. Song X, Bishop JE, Okamura WH, Norman AW. Stimulation of phosphorylation of mitogen-activated protein kinase by 1alpha,25-dihydroxyvitamin D3 in promyelocytic NB4 leukemia cells: a structurefunction study. Endocrinology 1998; 139:457-465. (Pubitemid 28513189)
16. Massheimer V, Boland R, de Boland AR. Rapid 1,25(OH)2-vitamin D3 stimulation of calcium uptake by rat intestinal cells involves a dihydropyridine-sensitive cAMP-dependent pathway. Cell Signal 1994; 6:299-304. (Pubitemid 24208201)
17. Boyan BD, Sylvia VL, Curry D, Chang Z, Dean DD, Schwartz Z. Arachidonic acid is an autocoid mediator of the differential action of 1,25-(OH)2D3 and 24,25-(OH)2D3 on growth plate chondrocytes. J Cell Physiol 1998; 176:516-524. (Pubitemid 28383912)
18. Khare S, Bolt MJ, Wali RK, Skarosi SF, Roy HK, Niedziela S, et al. 1,25 dihydroxyvitamin D3 stimulates phospholipase C-gamma in rat colonocytes: role of c-Src in PLC-gamma activation. J Clin Invest 1997; 99:1831-1841. (Pubitemid 27175930)
19. Rebsamen MC, Sun J, Norman AW, Liao JK. 1alpha,25-dihydroxyvitamin D3 induces vascular smooth muscle cell migration via activation of phosphatidylinositol 3-kinase. Circ Res 2002; 91:17-24. (Pubitemid 34778937)
20. Beno DW, Brady LM, Bissonnette M, Davis BH. Protein kinase C and mitogen-activated protein kinase are required for 1,25-dihydroxyvitamin D3-stimulated Egr induction. J Biol Chem 1995; 270:3642-3647.
21. Nemere I, Yoshimoto Y, Norman AW. Calcium transport in perfused duodena from normal chicks: enhancement within fourteen minutes of exposure to 1,25-dihydroxyvitamin D3. Endocrinology 1984; 115:1476-1483. (Pubitemid 14000314)
22. Norman AW, Okamura WH, Hammond MW, Bishop JE, Dormanen MC, Bouillon R, et al. Comparison of 6-s-cis-and 6-s-trans-locked analogs of 1alpha,25- dihydroxyvitamin D3 indicates that the 6-s-cis conformation is preferred for rapid nongenomic biological responses and that neither 6-s-cis-nor 6-s-trans-locked analogs are preferred for genomic biological responses. Mol Endocrinol 1997; 11:1518-1531. (Pubitemid 27366762)
23. Kajikawa M, Ishida H, Fujimoto S, Mukai E, Nishimura M, Fujita J, et al. An insulinotropic effect of vitamin D analog with increasing intracellular Ca2+ concentration in pancreatic beta-cells through nongenomic signal transduction. Endocrinology 1999; 140:4706-4712. (Pubitemid 30666138)
24. Kadowaki S, Norman AW. Time course study of insulin secretion after 1,25-dihydroxyvitamin D3 administration. Endocrinology 1985; 117:1765-1771. (Pubitemid 16200762)
25. Uitterlinden AG, Fang Y, van Meurs JB, Pols HA, Van Leeuwen JP. Genetics and biology of vitamin D receptor polymorphisms. Gene 2004; 338:143-156. (Pubitemid 39094759)
26. Valdivielso JM, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 2006; 371:1-12. (Pubitemid 44162891)
27. Larriba MJ, Bonilla F, Munoz A. The transcription factors Snail1 and Snail2 repress vitamin D receptor during colon cancer progression. J Steroid Biochem Mol Biol 2010; 121:106-109.
28. Palmer HG, Larriba MJ, Garcia JM, Ordonez-Moran P, Pena C, Peiro S, et al. The transcription factor SNAIL represses vitamin D receptor expression and responsiveness in human colon cancer. Nat Med 2004; 10:917-919. (Pubitemid 39273731)
29. Pena C, Garcia JM, Silva J, Garcia V, Rodriguez R, Alonso I, et al. E-cadherin and vitamin D receptor regulation by SNAIL and ZEB1 in colon cancer: clinicopathological correlations. Hum Mol Genet 2005; 14:3361-3370. (Pubitemid 41672120)
30. Fang Y, van Meurs JB, d'Alesio A, Jhamai M, Zhao H, Rivadeneira F, et al. Promoter and 30-untranslated-region haplotypes in the vitamin D receptor gene predispose to osteoporotic fracture: the Rotterdam study. Am J Hum Genet 2005; 77:807-823. (Pubitemid 41513282)
31. Nejentsev S, Godfrey L, Snook H, Rance H, Nutland S, Walker NM, et al. Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene. Hum Mol Genet 2004; 13:1633-1639. (Pubitemid 39136719)
32. Te Winkel ML, van Beek RD, de Muinck Keizer-Schrama SM, Uitterlinden AG, Hop WC, Pieters R, et al. Pharmacogenetic risk factors for altered bone mineral density and body composition in pediatric acute lymphoblastic leukemia. Haematologica 2010; 95:752-759.
33. Jehan F, Gaucher C, Nguyen TM, Walrant-Debray O, Lahlou N, Sinding C, et al. Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment. J Clin Endocrinol Metab 2008; 93:4672-4682.
34. Rowland GW, Schwartz GG, John EM, Ingles SA. Calcium intake and prostate cancer among African Americans: effect modification by vitamin D receptor calcium absorption genotype. J Bone Miner Res 2011 [Epub ahead of print].
35. Halsall JA, Osborne JE, Pringle JH, Hutchinson PE. Vitamin D receptor gene polymorphisms, particularly the novel A-1012G promoter polymorphism, are associated with vitamin D3 responsiveness and non-familial susceptibility in psoriasis. Pharmacogenet Genomics 2005; 15:349-355. (Pubitemid 40676557)
36. Abrams SA, Griffin IJ, Hawthorne KM, Chen Z, Gunn SK, Wilde M, et al. Vitamin D receptor Fok1 polymorphisms affect calcium absorption, kinetics, and bone mineralization rates during puberty. J Bone Miner Res 2005; 20:945-953. (Pubitemid 40712818)
37. Ames SK, Ellis KJ, Gunn SK, Copeland KC, Abrams SA. Vitamin D receptor gene Fok1 polymorphism predicts calcium absorption and bone mineral density in children. J Bone Miner Res 1999; 14:740-746. (Pubitemid 29210600)
38. Elnenaei MO, Chandra R, Mangion T, Moniz C. Genomic and metabolomic patterns segregate with responses to calcium and vitamin D supplementation. Br J Nutr 2011; 105:71-79.
39. Roth DE, Soto G, Arenas F, Bautista CT, Ortiz J, Rodriguez R, et al. Association between vitamin D receptor gene polymorphisms and response to treatment of pulmonary tuberculosis. J Infect Dis 2004; 190:920-927. (Pubitemid 39120969)
40. Sharma V, Fretwell D, Crees Z, Kerege A, Klopper JP. Thyroid cancer resistance to vitamin D receptor activation is associated with 24-hydroxylase levels but not the ff FokI polymorphism. Thyroid 2010; 20:1103-1111.
41. Alimirah F, Peng X, Murillo G, Mehta RG. Functional significance of vitamin D receptor FokI polymorphism in human breast cancer cells. PLoS One 2011; 6:e16024.
42. Dayangac-Erden D, Karaduman A, Erdem-Yurter H. Polymorphisms of vitamin D receptor gene in Turkish familial psoriasis patients. Arch Dermatol Res 2007; 299:487-491. (Pubitemid 350160056)
43. Andraos C, Koorsen G, Knight JC, Bornman L. Vitamin D receptor gene methylation is associated with ethnicity, tuberculosis, and TaqI polymorphism. Hum Immunol 2011; 72:262-268.
44. Morrison NA, George PM, Vaughan T, Tilyard MW, Frampton CM, Gilchrist NL. Vitamin D receptor genotypes influence the success of calcitriol therapy for recurrent vertebral fracture in osteoporosis. Pharmacogenet Genomics 2005; 15:127-135. (Pubitemid 40562989)
45. Arabi A, Zahed L, Mahfoud Z, El-Onsi L, Nabulsi M, Maalouf J, et al. Vitamin D receptor gene polymorphisms modulate the skeletal response to vitamin D supplementation in healthy girls. Bone 2009; 45:1091-1097.
46. Ryan C, Renfro L, Collins P, Kirby B, Rogers S. Clinical and genetic predictors of response to narrowband ultraviolet B for the treatment of chronic plaque psoriasis. Br J Dermatol 2010; 163:1056-1063.
47. Palomba S, Orio F Jr., Russo T, Falbo A, Tolino A, Manguso F, et al. BsmI vitamin D receptor genotypes influence the efficacy of antiresorptive treatments in postmenopausal osteoporotic women. A 1-year multicenter, randomized and controlled trial. Osteoporos Int 2005; 16:943-952. (Pubitemid 41127104)
48. Creatsa M, Pliatsika P, Kaparos G, Antoniou A, Armeni E, Tsakonas E, et al. The effect of vitamin D receptor BsmI genotype on the response to osteoporosis treatment in postmenopausal women: a pilot study. J Obstet Gynaecol Res 2011; 37:1415-1422.
49. Lambrinoudaki I, Kaparos G, Armeni E, Alexandrou A, Damaskos C, Logothetis E, et al. BsmI vitamin D receptor's polymorphism and bone mineral density in men and premenopausal women on long-term antiepileptic therapy. Eur J Neurol 2011; 18:93-98.
50. Hubner RA, Muir KR, Liu JF, Logan RF, Grainge MJ, Houlston RS. Dairy products, polymorphisms in the vitamin D receptor gene and colorectal adenoma recurrence. Int J Cancer 2008; 123:586-593. (Pubitemid 351898416)
51. D'Alesio A, Garabedian M, Sabatier JP, Guaydier-Souquieres G, Marcelli C, Lemacon A, et al. Two single-nucleotide polymorphisms in the human vitamin D receptor promoter change protein-DNA complex formation and are associated with height and vitamin D status in adolescent girls. Hum Mol Genet 2005; 14:3539-3548. (Pubitemid 41672135)
52. Arai H, Miyamoto KI, Yoshida M, Yamamoto H, Taketani Y, Morita K, et al. The polymorphism in the caudal-related homeodomain protein Cdx-2 binding element in the human vitamin D receptor gene. J Bone Miner Res 2001; 16:1256-1264. (Pubitemid 32574654)
53. Yamamoto H, Miyamoto K, Li B,Taketani Y, Kitano M, Inoue Y, et al. The caudalrelated homeodomain protein Cdx-2 regulates vitamin D receptor gene expression in the small intestine. J Bone Miner Res 1999; 14:240-247. (Pubitemid 29066249)
54. International HapMap Consortium. The International HapMap Project. Nature 2003; 426:789-796.
55. Saijo T, Ito M, Takeda E, Huq AH, Naito E, Yokota I, et al. A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin Ddependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am J Hum Genet 1991; 49:668-673. (Pubitemid 21891713)
56. Jurutka PW, Remus LS,Whitfield GK, Thompson PD, Hsieh JC, Zitzer H, et al. The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB. Mol Endocrinol 2000; 14:401-420. (Pubitemid 32260532)
57. Van EE, Verlinden L, Giulietti A, Ramos-Lopez E, Branisteanu DD, Ferreira GB, et al. The vitamin D receptor gene FokI polymorphism: functional impact on the immune system. Eur J Immunol 2007; 37:395-405. (Pubitemid 46915579)
58. Selvaraj P. Vitamin D, vitamin D receptor, and cathelicidin in the treatment of tuberculosis. Vitam Horm 2011; 86:307-325.