Vnitr Lek 2012, 58(5):381-385

Vitamin D receptor gene polymorphism

M. Pešta
Centrální laboratoř pro imunoanalýzu Lékařské fakulty UK Plzeň, přednosta prof. MUDr. Ondřej Topolčan, DrSc.

Most biological activities of 1,25-dihydroxyvitamin D is mediated by the nuclear vitamin D receptor (VDR), which acts as a transcription factor activated by ligand. In VDR gene were found many polymorphisms. They are located in 4 regions especially, 1 polymorphic region is located at the 5'-end of the gene (promoter), 3 polymorphic regions are located at the 3'-end of the gene. Some gene polymorphisms of the vitamin D receptor affect its function, has been demonstrated its influence on bone density (BMD) or associated with the occurrence of some cancers. However, to what extent affect health status and what role played the complicity polymorphisms of other genes requires further investigation.

Keywords: 1,25-dihydroxyvitamin D; vitamin D receptor; VDR; polymorphism

Received: November 29, 2011; Published: May 1, 2012  Show citation

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Pešta M. Vitamin D receptor gene polymorphism. Vnitr Lek. 2012;58(5):381-385.
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    References

    1. Haussler MR, Whitfield GK, Haussler CA et al. The nuclear vitamin D receptor: biological and molecular regulatory properties revealed. J Bone Miner Res 1998; 13: 325-349. Go to original source... Go to PubMed...
    2. Norman AW. From vitamin D to hormone D: fundamentals of the vitamin D endocrine system essential for good health. Am J Clin Nutr 2008; 88: 491S-499S. Go to original source... Go to PubMed...
    3. Brumbaugh PF, Haussler DH, Bursac KM et al. Filter assay for 1alpha, 25-dihydroxyvitamin D3. Utilization of the hormone's target tissue chromatin receptor. Biochemistry 1974; 13: 4091-4097. Go to original source... Go to PubMed...
    4. Baker AR, McDonnell DP, Hughes M et al. Cloning and expression of full-length cDNA encoding human vitamin D receptor. Proc Natl Acad Sci USA 1988; 85: 3294-3298. Go to original source... Go to PubMed...
    5. Miyamoto K, Kesterson RA, Yamamoto H et al. Structural organization of the human vitamin D receptor chromosomal gene and its promoter. Mol Endocrinol 1997; 11: 1165-1179. Go to original source... Go to PubMed...
    6. Malloy PJ, Eccleshall TR, Gross C et al. Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness. J Clin Invest 1997; 99: 297-304. Go to original source... Go to PubMed...
    7. Gross C, Eccleshall TR, Malloy PJ et al. The presence of a polymorphism at the translation initiation site of the vitamin D receptor gene is associated with low bone mineral density in postmenopausal Mexican-American women. J Bone Miner Res 1996; 11: 1850-1855. Go to original source... Go to PubMed...
    8. Saijo T, Ito M, Takeda E et al. A unique mutation in the vitamin-D receptor gene in 3 Japanese patients with vitamin-D dependent rickets type-II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection. Am J Hum Genet 1991; 49: 668-673.
    9. Uitterlinden AG, Fang Y, Van Meurs JB et al. Genetics and biology of vitamin D receptor polymorphisms. Gene 2004; 338: 143-156. Go to original source... Go to PubMed...
    10. Arai H, Miyamoto KI, Yoshida M 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. Go to original source... Go to PubMed...
    11. Fang Y, van Meurs JB, d'Alesio A et al. Promoter and 3'-untranslated-region haplotypes in the vitamin D receptor gene predispose to osteoporotic fracture: the Rotterdam study. Am J Hum Genet 2005; 77: 807-823. Go to original source... Go to PubMed...
    12. d'Alesio A, Garabédian M, Sabatier JP 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. Go to original source... Go to PubMed...
    13. Morrison NA, Yeoman R, Kelly PJ et al. Contribution of trans-acting factor alleles to normal physiological variability: vitamin D receptor gene polymorphisms and circulating osteocalcin. Proc Natl Acad Sci USA 1992; 89: 6665-6669. Go to original source... Go to PubMed...
    14. Morrison NA, Qi JC, Tokita A et al. Prediction of bone-density from vitamin-D receptor alleles. Nature 1994; 367: 284-287. Go to original source... Go to PubMed...
    15. Valdivielso JM, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 2006; 371: 1-12. Go to original source... Go to PubMed...
    16. Arai H, Miyamoto KI, Yoshida M 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. Go to original source... Go to PubMed...
    17. Quesada-Gomez JM, Casado A, Cuenca-Acevedo R et al. The polymorphisms of the VDR cdx-2 influence bone mineral density (BMD) in postmenopausal women. J Bone Miner Res 2004; 19: 250.
    18. Uitterlinden AG, Burger H, Huang Q et al. Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee. J Clin Invest 1997; 100: 259-263. Go to original source... Go to PubMed...
    19. Keen RW, Hart DJ, Lanchbury JS et al. Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene. Arthritis Rheum 1997; 40: 1444-1449. Go to original source... Go to PubMed...
    20. Carling T, Kindmark A, Hellman P et al. Vitamin D receptor genotypes in primary hyperparathyroidism. Nat Med 1995; 1: 1309-1311. Go to original source... Go to PubMed...
    21. Valdivielso JM, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 2006; 371: 1-12. Go to original source... Go to PubMed...
    22. Vigo Gago E, Cadarso-Suárez C, Perez-Fernandez R et al. Association between vitamin D receptor Fokl. Polymorphism and serum parathyroid hormone level in patients with chronic renal failure. J Endocrinol Invest 2005; 28: 117-121. Go to original source... Go to PubMed...
    23. Yokoyama K, Shigematsu T, Tsukada T et al. Apa I polymorphism in the vitamin D receptor gene may affect the parathyroid response in Japanese with end-stage renal disease. Kidney Int 1998; 53: 454-458. Go to original source... Go to PubMed...
    24. Nejentsev S, Cooper JD, Godfrey L et al. Analysis of the vitamin D receptor gene sequence variants in type 1 diabetes. Diabetes 2004; 53: 2709-2712. Go to original source... Go to PubMed...
    25. Taylor JA, Hirvonen A, Watson M et al. Association of prostate cancer with vitamin D receptor gene polymorphism. Cancer Res 1996; 56: 4108-4110.
    26. Correa-Cerro L, Berthon P, Häussler J et al. Vitamin D receptor polymorphisms as markers in prostate cancer. Hum Genet 1999; 105: 281-287. Go to original source... Go to PubMed...
    27. Ingles SA, Ross RK, Yu MC et al. Association of prostate cancer risk with genetic polymorphisms in vitamin D receptor and androgen receptor. J Natl Cancer Inst 1997; 89: 166-170. Go to original source... Go to PubMed...
    28. Chokkalingam AP, McGlynn KA, Gao Y T et al. Vitamin D receptor gene polymorphisms, insulin-like growth factors, and prostate cancer risk: a population-based case-control study in China. Cancer Res 2001; 61: 4333-4336.
    29. Curran JE, Vaughan T, Lea RA et al. Association of a vitamin D receptor polymorphism with sporadic breast cancer development. Int J Cancer 1999; 83: 723-726. Go to original source...
    30. Guy M, Lowe LC, Bretherton-Watt D et al. Vitamin D receptor gene polymorphisms and breast cancer risk. Clin Cancer Res 2004; 10: 5472-5481. Go to original source... Go to PubMed...
    31. Raimondi S, Johansson H, Maisonneuve P et al. Review and meta-analysis onvitamin D receptor polymorphisms and cancer risk. Carcinogenesis 2009; 30: 1170-1180. Go to original source... Go to PubMed...
    32. Speer G, Dworak O, Cseh K et al. Vitamin D receptor gene BsmI polymorphism correlates with erbB-2/HER-2 expression in human rectal cancer. Oncology 2000; 58: 242-247. Go to original source... Go to PubMed...
    33. Kim HS, Newcomb PA, Ulrich CM et al. Vitamin D receptor polymorphism and the risk of colorectal adenomas: evidence of interaction with dietary vitamin D and calcium. Cancer Epidemiol Biomarkers Prev 2001; 10: 869-874.
    34. Ochs-Balcom HM, Cicek MS, Thompson CL et al. Association of vitamin D receptor gene variants, adiposity and colon cancer. Carcinogenesis 2008; 29: 1788-1793. Go to original source... Go to PubMed...
    35. Köstner K, Denzer N, Müller CS et al. The relevance of vitamin D receptor (VDR) gene polymorphisms for cancer: a review of the literature. Anticancer Res 2009; 29: 3511-3536.

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