Vitamin D Receptor Gene Expression and Function in a South African Population: Ethnicity, Vitamin D and FokI

PLoS ONE

Volumn 8, Issue 6, 2013, Pages

  O'Neill, Vanessa ^a   Asani, Furaha Florence ^a   Jeffery, Tamsyn Jacki ^a   Saccone, Donovan Sean ^a   Bornman, Liza ^a  

^a UNIVERSITY OF JOHANNESBURG   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIFEDIOL; CALCITRIOL; CYTOSINE; VITAMIN D; VITAMIN D RECEPTOR; CALCITRIOL RECEPTOR; CATHELICIDIN; CATHELICIDIN ANTIMICROBIAL PEPTIDE; COLECALCIFEROL 24 HYDROXYLASE; ENDODEOXYRIBONUCLEASE FOKI; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE; VDR PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; CALCIFEDIOL BLOOD LEVEL; CAMP GENE; CAUCASIAN; CONTROLLED STUDY; CYP24A1 GENE; DNA POLYMORPHISM; ETHNIC DIFFERENCE; ETHNIC GROUP; ETHNICITY; FEMALE; FOKI GENE; GENE; GENE ACTIVATION; GENE EXPRESSION; GENE FUNCTION; GENE INDUCTION; GENE SEQUENCE; GENE TARGETING; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE MAP; HUMAN; HUMAN CELL; MALE; MONOCYTE; NUTRITIONAL STATUS; POPULATION GENETICS; PYROSEQUENCING; SOUTH AFRICAN; TRANSACTIVATION; VITAMIN BLOOD LEVEL; VITAMIN D RECEPTOR GENE; VITAMIN SUPPLEMENTATION; VOLUNTEER; ALLELE; BLACK PERSON; BLOOD; CYTOLOGY; GENE FREQUENCY; GENETICS; METABOLISM; MIDDLE AGED; MONONUCLEAR CELL; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH AMERICA; YOUNG ADULT;

ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; AGED; ALLELES; CATHELICIDINS; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENOTYPE; HUMANS; LEUKOCYTES, MONONUCLEAR; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CALCITRIOL; SOUTH AMERICA; VITAMIN D; VITAMIN D3 24-HYDROXYLASE; YOUNG ADULT;

EID: 84879259970     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0067663     Document Type: Article

References (56)

1. Baeke F, Takiishi T, Korf H, Gysemans C, Mathieu C, (2011) Vitamin D: modulator of the immune system. Curr Opin Pharmacol 10: 482-496.
2. Haussler MR, Whitfield GK, Kaneko I, Haussler CA, Hsieh D, et al. (2013) Molecular Mechanisms of Vitamin D Action. Calcif Tissue Int 92: 77-98.
3. Wang TJ, Zhang F, Richards JB, Kestenbaum B, van Meurs JB, et al. (2010) Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet 7;376(9736): 180-8.
4. Campbell GR, Spector SA, (2012) Vitamin D inhibits human immunodeficiency virus type 1 and Mycobacterium tuberculosis infection in macrophages through the induction of autophagy. PLoS Pathog 8: e1002689.
5. Zierold C, Darwish HM, DeLuca HF, (1995) Two Vitamin D Response Elements Function in the Rat 1,25-dihydroxyvitamin D 24-Hydroxylase. J Biol Chem 270(4): 1675-78.
6. Kim S, Shevde NK, Pike JW, (2005) 1,25-Dihydroxyvitamin D3 stimulates cyclic vitamin D receptor/retinoid X receptor DNA-binding, co-activator recruitment, and histone acetylation in intact osteoblasts. J Bone Miner Res 20: 305-17.
7. Meyer MB, Goetsch PD, Pike JW, (2010) A downstream intergenic cluster of regulatory enhancers contributes to the induction of CYP24A1 expression by 1alpha,25-dihydroxyvitamin D3. J Biol Chem 285(20): 15599-610.
8. Gombart AF, Borregaard N, Koeffler HP, (2005) Human cathelicidin antimicrobial peptide (CAMP) gene is a direct target of the vitamin D receptor and is strongly up-regulated in myeloid cells by 1,25-dihydroxyvitamin D3. FASEB J 19: 1067-77.
9. Wang TT, Nestel FP, Bourdeau V, Nagai Y, Wang Q, et al. (2004) Cutting edge: 1,25-dihydroxyvitamin D3 is a direct inducer of antimicrobial peptide gene expression. J Immunol 173: 2909-12.
10. Valdivielso JM, Fernandez E, (2060) Vitamin D receptor polymorphisms and diseases. Clinica Chimica Acta 371: 1-12.
11. Arai H, Miyamoto K, Taketani Y, Yamamoto H, Iemori Y, et al. (1997) A vitamin D receptor gene polymorphism in the translation initiation codon: effect on protein activity and relation to bone mineral density in Japanese women. J Bone Miner Res 12: 915-921.
12. Jurutka PW, Remus LS, Whitfield GK, Thompson PD, Hsieh JC, et al. (2000) The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB. Mol Endocrinol 14: 401-20.
13. van Etten E, Verlinden L, Giulietti A, Ramos-Lopez E, Branisteanu DD, et al. (2007) The vitamin D receptor gene FokI polymorphism: functional impact on the immune system. Eur J Immunol 37: 395-405.
14. Alimirah F, Peng X, Murillo G, Mehta RG, (2011) Functional Significance of Vitamin D Receptor FokI Polymorphism in Human Breast Cancer Cells. PLoS One 6: e16024.
15. Wilkinson RJ, Llewelyn M, Toossi Z, Patel P, Pasvol G, 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: 618-21.
16. Wong H, Seow A, Arakawa K, Lee H, Yu MC, et al. (2003) Vitamin D receptor start codon polymorphism and colorectal cancer risk: effect modification by dietary calcium and fat in Singapore Chinese. Carcinogenesis 24: 1091-5.
17. Norman AW, (1998) Sunlight, season, skin pigmentation, vitamin D, and 25-hydroxyvitamin D: integral components of the vitamin D endocrine system. Am J Clin Nutr 67: 1108-10.
18. Hagenau T, Vest R, Gissel TN, Poulsen CS, Erlandsen M, et al. (2009) Global vitamin D levels in relation to age, gender, skin pigmentation and latitude: an ecologic meta-regression analysis. Osteoporos Int 20: 133-40.
19. Gibney KB, MacGregor L, Leder K, Torresi J, Marshall C, et al. (2008) Vitamin D deficiency is associated with tuberculosis and latent tuberculosis infection in immigrants from sub-Saharan Africa. Clin Infect Dis 46: 443-6.
20. Martineau AR, Nhamoyebonde S, Oni T, Rangakad MX, Maraisd S, et al. (2011) Reciprocal seasonal variation in vitamin D status and tuberculosis notifications in Cape Town, South Africa. PNAS USA 108: 19013-7.
21. Buttigleiro C, Monagheddu C, Petroni P, Saini A, Dogliotti L, et al. (2011) Prognostic role of vitamin D supplementation efficacy of vitamin D supplementation in cancer patients: A systematic review. The Oncologist 16: 1215-27.
22. Luong K, Nguyen LTH, (2010) The beneficial role of vitamin D and its analogs in cancer treatment and prevention. Crit Rev Oncol Hematol 73: 192-201.
23. Parisi E, Rene JM, Cardus A, Valcheva P, Pinol-Felis C, et al. (2008) Vitamin D receptor levels in colorectal cancer: Possible role of BsmI polymorphism. J Steroid Biochem Mol Biol 111: 87-90.
24. Sumethkul K, Boonyaratavej S, Kitumnuaypong T, Angthararuk S, Cheewasat P, et al. (2012) The predictive factors of low serum 25-hydroxyvitamin D and vitamin D deficiency in patients with systemic lupus erythematosus. Rheumatol Int [Epub ahead of print].
25. Murdoch DR, Slow S, Chambers ST, Jennings LC, Stewart AW, et al. (2012) Effect of vitamin D3 supplementation on upper respiratory tract infections in healthy adults: the VIDARIS randomized controlled trial. JAMA 308: 1333-9.
26. Gepner AD, Ramamurthy R, Krueger DC, Korcarz CE, Binkley N, et al. (2012) A prospective randomized controlled trial of the effects of vitamin D supplementation on cardiovascular disease risk. PLoS One 7: e36617.
27. Martineau AR, Timms PM, Bothamley GH, Hanifa Y, Islam K, et al. (2011) High-dose vitamin D(3) during intensive-phase antimicrobial treatment of pulmonary tuberculosis: a double-blind randomised controlled trial. Lancet 377: 242-50.
28. Carter GD, (2011) Accuracy of 25-hydroxyvitamin D assays: confronting the issues. Curr Drug Targets 12: 19-28.
29. Berry D, Hyppönen E, (2011) Determinants of vitamin D status: focus on genetic variations. Curr Opin Nephrol 20: 331-6.
30. Vandesompele J, De Preter K, Pattyn F, Poppe B, Van Roy N, et al. (2002) Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes. Genome Biol 3: research0034.
31. Bustin SA, Benes V, Garson JA, Hellemans J, Huggett J, et al. (2009) The MIQE Guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem 55: 611-22.
32. Vermeulen J, Pattyn F, De Preter K, Vercruysse L, Derveaux S, et al. (2009) External oligonucleotide standards enable cross laboratory comparison and exchange of real-time quantitative PCR data. Nucleic Acids Res 37: e138.
33. Hellemans J, Mortier G, De Paepe A, Speleman F, Vandesompele J, (2007) qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. Genome Biol 8: R19.
34. Dendrou CA, Fung E, Esposito L, Todd JA, Wicker LS, et al. (2009) Fluorescence Intensity Normalisation: Correcting for Time Effects in Large-Scale Flow Cytometric Analysis. Adv Bioinformatics 476106.
35. International HapMap Project (2013). Retrieved from http://hapmap.ncbi.nlm.nih.gov on 15 January 2013.
36. Chen KS, DeLuca HF, (1995) Cloning of the human 1 alpha,25-dihydroxyvitamin D-3 24-hydroxylase gene promoter and identification of two vitamin D-responsive elements. Biochim Biophys Acta 1263: 1-9.
37. Milner J, Trujillo EB, Kaefer CM, Ross S. Nutrigenomics. In: National Research Council (US) Committee on Advances in Collecting, Utilizing Biological Indicators, Genetic Information in Social Science Surveys; Weinstein M, Vaupel JW, Wachter KW, editors. Biosocial Surveys. Washington (DC): National Academies Press (US) 2008: 14 Available from: http://www.ncbi.nlm.nih.gov/books/NBK62425/.
38. Stead WW, Senner JW, Reddick WT, Lofgren JP, (1990) Racial differences in susceptibility to infection by Mycobacterium tuberculosis. N Engl J Med 322: 422-7.
39. Ashktorab H, Nguza B, Fatemi M, Nouraie M, Smoot DT, et al. (2011) Case-control study of vitamin D, dickkopf homolog 1 (DKK1) gene methylation, VDR gene polymorphism and the risk of colon adenoma in African Americans. PLoS One 6: e25314.
40. Lui PT Stenger, S. Huiying L, Wenzel L, Tan BH, et al. (2006) Toll-Like receptor triggering of vitamin D-mediated human antimicrobial response. Science 311: 1770-3.
41. Zella LA, Meyer MB, Nerenz RD, Lee SM, Martowicz ML, et al. (2010) Multifunctional Enhancers Regulate Mouse and Human Vitamin D Receptor Gene Transcription Molecular Endocrinology. 24: 128-47.
42. Adams JS, Ren S, Liu PT, Chun RF, Lagishetty V, et al. (2009) Vitamin d-directed rheostatic regulation of monocyte antibacterial responses. J Immunol 182: 4289-95.
43. Selvaraj P, Anand SP, Harishankar M, Alagarasu K, (2009) Plasma 1,25 Dihydroxy Vitamin D3 Level and Expression of Vitamin D Receptor and Cathelicidin in Pulmonary Tuberculosis. J Clin Immunol 29: 470-8.
44. Harris SS, Dawson-Hughes B, (1998) Seasonal changes in plasma 25-hydroxyvitamin D concentrations of young American black and white women. Am J of Clin Nutr 67: 1232-6.
45. Dawson-Hughes B, (2004) Racial/ethnic considerations in making recommendations for vitamin D for adult and elderly men and women. Am J Clin Nutr 80: 1763S-6S.
46. Pettifor JM, Moodley GP, Hough FS, Koch H, Chen T, et al. (1996) The effect of season and latitude on in vitro vitamin D formation by sunlight in South Africa. S Afr Med J 86: 1270-2.
47. Luxwolda MF, Kuipers RS, Kema IP, Janneke Dijck-Brouwer DA, et al. (2012) Traditionally living populations in East Africa have a mean serum 25-hydroxyvitamin D concentration of 115 nmol/l. Br J Nutr 108: 1557-61.
48. Hendrickson WK, Flavin R, Kasperzyk JL, Fiorentino M, Fang F, et al. (2011) Vitamin D Receptor Protein Expression in Tumor Tissue and Prostate Cancer Progression. J Clin Oncol: 2378-85.
49. Lips P, (2007) Relative value of 25(OH)D and 1,25(OH)2D measurements. J Bone Miner Res 22: 1668-71.
50. Whitfield GK, Remus LS, Jurutka PW, Zitzer H, Oza AK, et al. (2001) Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 177: 145-59.
51. Uitterlinden AG, Fang Y, van Meurs JBJ, Pols HAP, van Leeuwen JPTM, (2004) Genetics and biology of vitamin D receptor polymorphisms. Gene 338: 143-56.
52. Roff A, Carastro LM, Wilson RT, (2008) A novel SNP in a vitamin D response element of the CYP24A1 promoter reduces protein binding, transactivation, and gene expression. J. Steroid Biochem. Mol. Biol 112: 47-54.
53. dbSNP Short Genetic Variations (2013). Retrieved from http://www.ncbi.nlm.nih.gov/projects/SNP/ on 10 January 2013.
54. Jablonski NG, Chaplin G, (2010) Human skin pigmentation as an adaptation to UV radiation. PNAS 107: 8962-8.
55. Oswald NC, (1946) Pulmonary tuberculosis in African native troops. Thorax 1: 100-17.
56. WHO Global TB Report (2012). Retrieved from www.who.int on 2 February 2013.