Vitamin D receptor polymorphisms and 25-hydroxyvitamin D in a group of Sicilian multiple sclerosis patients

Neurological Sciences

Volumn 37, Issue 2, 2016, Pages 261-267

  Agnello, Luisa ^a   Scazzone, C ^a   Ragonese, P ^a   Salemi, G ^a   Lo Sasso, B ^a   Schillaci, R ^a   Musso, G ^a   Bellia, C ^a   Ciaccio, M ^a  

^a UNIVERSITY OF PALERMO   (Italy)

Author keywords

25(OH)D; Multiple sclerosis; VDR polymorphisms; Vitamin D

Indexed keywords

25 HYDROXYVITAMIN D; APA I PROTEIN; BSM I PROTEIN; FOK I PROTEIN; PROTEIN; TAQ I PROTEIN; UNCLASSIFIED DRUG; VITAMIN D RECEPTOR; 25-HYDROXYVITAMIN D; CALCITRIOL RECEPTOR; VITAMIN D;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETIC MODEL; GENETIC SUSCEPTIBILITY; GENOTYPE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; VITAMIN BLOOD LEVEL; VITAMIN D METABOLISM; ANALOGS AND DERIVATIVES; BLOOD; GENETICS; MIDDLE AGED; SICILY;

ADULT; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MULTIPLE SCLEROSIS; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RECEPTORS, CALCITRIOL; SICILY; VITAMIN D;

EID: 84957843408     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-015-2401-0     Document Type: Article

References (34)

1. Ascherio A, Munger KL, Lünemann JD (2012) The initiation and prevention of multiple sclerosis. Nat Rev Neurol 8:602–612
2. Agmon-Levin N, Theodor E, Segal RM, Shoenfeld Y (2013) Vitamin D in systemic and organ-specific autoimmune diseases. Clin Rev Allergy Immunol 45(2):256–266
3. Burton JM, Costello FEJ (2015) Vitamin D in multiple sclerosis and central nervous system demyelinating disease—a review. Neuroophthalmol 35(2):194–200
4. Huang J, Xie ZF (2012) Polymorphisms in the vitamin D receptor gene and multiple sclerosis risk: a meta-analysis of case-control studies. J Neurol Sci 313(1–2):79–85
5. Ingles SA, Haile RW, Henderson BE, Kolonel LN, Nakaichi G, Shi CY, Yu MC, Ross RK, Coetzee GA (1997) Strength of linkage disequilibrium between two vitamin D receptor markers in five ethnic groups: implications for association studies. Cancer Epidemiol Biomark Prev 6(2):93–98
6. García-Martín E, Agúndez JA, Martínez C, Benito-León J, Millán-Pascual J, Calleja P, Díaz-Sánchez M, Pisa D, Turpín-Fenoll L, Alonso-Navarro H, Ayuso-Peralta L, Torrecillas D, Plaza-Nieto JF, Jiménez-Jiménez FJ (2013) Vitamin D3 receptor (VDR) gene rs2228570 (Fok1) and rs731236 (Taq1) variants are not associated with the risk for multiple sclerosis: results of a new study and a meta-analysis. PLoS One 8(6):e65487
7. Tizaoui K, Kaabachi W, Hamzaoui A, Hamzaoui K (2015) Association between vitamin D receptor polymorphisms and multiple sclerosis: systematic review and meta-analysis of case-control studies. Cell Mol Immunol 12(2):243–252
8. Györffy B, Vásárhelyi B, Krikovszky D, Madácsy L, Tordai A, Tulassay T, Szabó A (2002) Gender-specific association of vitamin D receptor polymorphism combinations with type 1 diabetes mellitus. Eur J Endocrinol 147(6):803–808
9. Sioka C, Papakonstantinou S, Markoula S, Gkartziou F, Georgiou A, Georgiou I, Pelidou SH, Kyritsis AP, Fotopoulos A (2011) Vitamin D receptor gene polymorphisms in multiple sclerosis patients in northwest Greece. J Negat Results Biomed 5(10):3
10. Steckley JL, Dyment DA, Sadovnick AD, Risch N, Hayes C, Ebers GC (2000) Genetic analysis of vitamin D related genes in Canadian multiple sclerosis patients. Canadian Collaborative Study Group. Neurology 54(3):729–732
11. Simon KC, Munger KL, Yang Xing, Ascherio A (2010) Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. Mult Scler 16(2):133–138
12. Ben-Selma W, Ben-Fredj N, Chebel S, Frih-Ayed M, Aouni M, Boukadida J (2015) Age- and gender-specific effects on VDR gene polymorphisms and risk of the development of multiple sclerosis in Tunisians: a preliminary study. Int J Immunogenet 42(3):174–181
13. Fukazawa T, Yabe I, Kikuchi S, Sasaki H, Hamada T, Miyasaka K, Tashiro K (1999) Association of vitamin D receptor gene polymorphism with multiple sclerosis in Japanese. J Neurol Sci 166(1):47–52
14. Tajouri L, Ovcaric M, Curtain R, Johnson MP, Griffiths LR, Csurhes P, Pender MP, Lea RA (2005) Variation in the vitamin D receptor gene is associated with multiple sclerosis in an Australian population. J Neurogenet 19(1):25–38
15. Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, Van Leeuwen JP (2004) Genetics and biology of vitamin D receptor polymorphisms. Gene 338(2):143–156
16. Duan S, Lv Z, Fan X, Wang L, Han F, Wang H, Bi S (2014) Vitamin D status and the risk of multiple sclerosis: a systematic review and meta-analysis. Neurosci Lett 570:108–113
17. Orton SM, Morris AP, Herrera BM, Ramagopalan SV, Lincoln MR, Chao MJ, Vieth R, Sadovnick AD, Ebers GC (2008) Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis. Am J Clin Nutr 88(2):441–447
18. Smolders J, Damoiseaux J, Menheere P, Tervaert JW, Hupperts R (2009) Fok-I vitamin D receptor gene polymorphism (rs10735810) and vitamin D metabolism in multiple sclerosis. J Neuroimmunol 207(1–2):117–121
19. Smolders J, Peelen E, Thewissen M, Menheere P, Tervaert JW, Hupperts R, Damoiseaux J (2009) The relevance of vitamin D receptor gene polymorphisms for vitamin D research in multiple sclerosis. Autoimmun Rev 8(7):621–626
20. Jurutka PW, Remus LS, Whitfield GK, Thompson PD, Hsieh JC, Zitzer H, Tavakkoli P, Galligan MA, Dang HT, Haussler CA, Haussler MR (2000) The polymorphic N terminus in human vitamin D receptor isoforms influences transcriptional activity by modulating interaction with transcription factor IIB. Mol Endocrinol 14(3):401–420
21. Gross C, Krishnan AV, Malloy PJ, Eccleshall TR, Zhao XY, Feldman D (1998) The vitamin D receptor gene start codon polymorphism: a functional analysis of FokI variants. J Bone Miner Res 13(11):1691–1699
22. Dusso AS, Brown AJ, Slatopolsky E (2005) Vitamin D. Am J Physiol Renal Physiol 289(1):F8–F28
23. Takeyama K, Kitanaka S, Sato T, Kobori M, Yanagisawa J, Kato S (1997) 25-Hydroxyvitamin D3 1alpha-hydroxylase and vitamin D synthesis. Scienc. 277(5333):1827–1830
24. Theodoropoulos C, Demers C, Delvin E, Ménard D, Gascon-Barré M (2003) Calcitriol regulates the expression of the genes encoding the three key vitamin D3 hydroxylases and the drug-metabolizing enzyme CYP3A4 in the human fetal intestine. Clin Endocrinol (Oxf) 58(4):489–499
25. Theodoropoulos C, Demers C, Petit JL, Gascon-Barre M (2003) High sensitivity of rat hepatic vitamin D3-25 hydroxylase CYP27A to 1,25-dihydroxyvitamin D3 administration. Am J Physiol Endocrinol Metab 284(1):E138–E147
26. Leitner HH (2012) A randomized trial of high-dose vitamin D2 in relapsing-remitting multiple sclerosis. Neurology 78(11):840–841
27. Soilu-Hänninen M, Aivo J, Lindström BM, Elovaara I, Sumelahti ML, Färkkilä M, Tienari P, Atula S, Sarasoja T, Herrala L, Keskinarkaus I, Kruger J, Kallio T, Rocca MA, Filippi M (2012) A randomised, double blind, placebo controlled trial with vitamin D3 as an add on treatment to interferon β-1b in patients with multiple sclerosis. J Neurol Neurosurg Psychiatry 83(5):565–571
28. Kampman MT, Steffensen LH, Mellgren SI, Jørgensen L (2012) Effect of vitamin D3 supplementation on relapses, disease progression, and measures of function in persons with multiple sclerosis: exploratory outcomes from a double-blind randomised controlled trial. Mult Scler 18(8):1144–1151
29. Wang TJ, Zhang F, Richards JB, Kestenbaum B, van Meurs JB, Berry D, Kiel DP, Streeten EA, Ohlsson C, Koller DL, Peltonen L, Cooper JD, O’Reilly PF, Houston DK, Glazer NL, Vandenput L, Peacock M, Shi J, Rivadeneira F, McCarthy MI, Anneli P, de Boer IH, Mangino M, Kato B, Smyth DJ, Booth SL, Jacques PF, Burke GL, Goodarzi M, Cheung CL, Wolf M, Rice K, Goltzman D, Hidiroglou N, Ladouceur M, Wareham NJ, Hocking LJ, Hart D, Arden NK, Cooper C, Malik S, Fraser WD, Hartikainen AL, Zhai G, Macdonald HM, Forouhi NG, Loos RJ, Reid DM, Hakim A, Dennison E, Liu Y, Power C, Stevens HE, Jaana L, Vasan RS, Soranzo N, Bojunga J, Psaty BM, Lorentzon M, Foroud T, Harris TB, Hofman A, Jansson JO, Cauley JA, Uitterlinden AG, Gibson Q, Järvelin MR, Karasik D, Siscovick DS, Econs MJ, Kritchevsky SB, Florez JC, Todd JA, Dupuis J, Hyppönen E, Spector TD (2010) Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet 17 376(9736):180–188
30. Lucas RM, Ponsonby AL, Dear K, Valery PC, Taylor B, van der Mei I, McMichael AJ, Pender MP, Chapman C, Coulthard A, Kilpatrick TJ, Stankovich J, Williams D, Dwyer T (2013) Vitamin D status: multifactorial contribution of environment, genes and other factors in healthy Australian adults across a latitude gradient. J Steroid Biochem Mol Biol 136:300–308
31. Kampman MT, Wilsgaard T, Mellgren SI (2007) Outdoor activities and diet in childhood and adolescence relate to MS risk above the Arctic Circle. J Neurol 254(4):471–477
32. Van der Mei IA, Ponsonby AL, Dwyer T, Blizzard L, Simmons R, Taylor BV, Butzkueven H, Kilpatrick T (2003) Past exposure to sun, skin phenotype, and risk of multiple sclerosis: case-control study. BMJ 9 327(7410):316
33. Smolders J, Menheere P, Kessels A, Damoiseaux J, Hupperts R (2008) Association of vitamin D metabolite levels with relapse rate and disability in multiple sclerosis. Mult Scler 14(9):1220–1224
34. Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L (2011) Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 10 476(7359):214–219