Fok‐I gene polymorphism of vitamin D receptor in patients with beta‐thalassemia major and its effect on vitamin D status

References

• Moulas A, Challa A, Chaliasos N, Lapatsanis PD. Vitamin D metabolites (25-hydroxyvitamin D, 24,25-dihydroxyvitamin D and 1,25-dihydroxyvitamin D) and osteocalcin in beta-thalassaemia. Acta Paediatr 1997;86:594–9.
   PubMed Web of Science ®Google Scholar
• Vogiatzi MG, Macklin EA, Trachtenberg FL, Fung EB, Cheung AM, Vichinsky E, et al.. Differences in the prevalence of growth, endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America. Br J Haematol 2009;146:546–56.
   PubMed Web of Science ®Google Scholar
• Wood JC, Claster S, Carson S, Menteer JD, Hofstra T, Khanna R, et al.. Vitamin D deficiency, cardiac iron and cardiac function in thalassaemia major. Br J Haematol 2008;141:891–4.
   PubMed Web of Science ®Google Scholar
• Dimitriadou M, Christoforidis A, Economou M, Tsatra I, Vlachaki E, Fidani L, et al.. Elevated serum parathormone levels are associated with myocardial iron overload in patients with beta­thalassaemia major. Eur J Haematol 2010;84:64–71.
   PubMed Web of Science ®Google Scholar
• Borgna-Pignatti C, Rugolotto S, de Stefano P, Zhao H, Cappellini MD, Del Vecchio GC, et al.. Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine. Haematologica 2004;89:1187–93.
   PubMed Web of Science ®Google Scholar
• Lips P. Vitamin D physiology. Prog Biophys Mol Biol 2006;92:4–8.
   PubMed Web of Science ®Google Scholar
• Uitterlinden AG, Fang Y, van Meurs JB, Pols HA, van Leeuwen JP. Genetics and biology of vitamin D receptor polymorphisms. Gene 2004;338:143–56.
   PubMed Web of Science ®Google Scholar
• Whitfield GK, Remus LS, Jurutka PW, Zitzer H, Oza AK, Dang HT, et al.. Functionally relevant polymorphisms in the human nuclear vitamin D receptor gene. Mol Cell Endocrinol 2001;177:145–59.
   PubMed Web of Science ®Google Scholar
• Gross C, Krishnan AV, Malloy PJ, Eccleshall TR, Zhao XY, Feldman D. The vitamin D receptor gene start codon polymorphism: a functional analysis of FokI variants. J Bone Miner Res 1998;13:1691–9.
   PubMed Web of Science ®Google Scholar
• Valdivielso JM, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 2006;371:1–12.
   PubMed Web of Science ®Google Scholar
• Hunter D, de Lange M, Snieder H, MacGregor AJ, Swaminathan R, Thakker RV, et al.. Genetic contribution to bone metabolism, calcium excretion, and vitamin D and parathyroid hormone regulation. J Bone Miner Res 2001;16:371–8.
   PubMed Web of Science ®Google Scholar
• Wjst M, Altmuller J, Braig C, Bahnweg M, Andre E. A genome-wide linkage scan for 25-OH-D3 and 1,25- (OH)2-D3 serum levels in asthma families. J Steroid Biochem Mol Biol 2007;103:799–802.
   PubMed Web of Science ®Google Scholar
• Smolders J, Damoiseaux J, Menheere P, Tervaert JW, Hupperts R. Fok-I vitamin D receptor gene polymorphism (rs10735810) and vitamin D metabolism in multiple sclerosis. J Neuroimmunol 2009;207:117–21.
   PubMed Web of Science ®Google Scholar
• Mayo O. A century of Hardy–Weinberg equilibrium. Twin Res Hum Genet 2008;11:249–56.
   PubMed Web of Science ®Google Scholar
• The International HapMap Project. Nature 2003;426:789–96.
   Google Scholar
• Keen RW, Major PJ, Lanchbury JS, Spector TD. Vitamin-D-receptor-gene polymorphism and bone loss. Lancet 1995;345:990.
   PubMed Web of Science ®Google Scholar
• Tantawy AA, El Kholy M, Moustafa T, Elsedfy HH. Bone mineral density and calcium metabolism in adolescents with beta-thalassemia major. Pediatr Endocrinol Rev 2008;6 Suppl 1:132–5.
   Google Scholar
• Ferrara M, Matarese SM, Francese M, Borrelli B, Coppola A, Coppola L, et al.. Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia. Br J Haematol 2002;117:436–40.
   PubMed Web of Science ®Google Scholar
• Dresner Pollack R, Rachmilewitz E, Blumenfeld A, Idelson M, Goldfarb AW. Bone mineral metabolism in adults with beta-thalassaemia major and intermedia. Br J Haematol 2000;111:902–7.
   PubMed Web of Science ®Google Scholar
• Tsushima RG, Wickenden AD, Bouchard RA, Oudit GY, Liu PP, Backx PH. Modulation of iron uptake in heart by L-type Ca2+ channel modifiers: possible implications in iron overload. Circ Res 1999;84:1302–9.
   PubMed Web of Science ®Google Scholar
• Oudit GY, Sun H, Trivieri MG, Koch SE, Dawood F, Ackerley C, et al.. L-type Ca2+ channels provide a major pathway for iron entry into cardiomyocytes in iron-overload cardiomyopathy. Nat Med 2003;9:1187–94.
   PubMed Web of Science ®Google Scholar
• Oudit GY, Trivieri MG, Khaper N, Husain T, Wilson GJ, Liu P http://www.ncbi.nlm.nih.gov/pubmed?term=%22Sole%20MJ%22%5BAuthor%5D", et al.. Taurine supplementation reduces oxidative stress and improves cardiovascular function in an iron-overload murine model. Circulation 2004;109:1877–85.
   PubMed Web of Science ®Google Scholar
• Orton SM, Morris AP, Herrera BM, Ramagopalan SV, Lincoln MR, Chao MJ, et al.. Evidence for genetic regulation of vitamin D status in twins with multiple sclerosis. Am J Clin Nutr 2008;88:441–7.
   PubMed Web of Science ®Google Scholar
• Hollis BW. Assessment of vitamin D nutritional and hormonal status: what to measure and how to do it. Calcif Tissue Int 1996;58:4–5.
   PubMed Web of Science ®Google Scholar
• Stamp TC, Round JM. Seasonal changes in human plasma levels of 25-hydroxyvitamin D. Nature 1974;247:563–5.
   PubMed Web of Science ®Google Scholar
• Napoli N, Carmina E, Bucchieri S, Sferrazza C, Rini GB, Di Fede G. Low serum levels of 25-hydroxy vitamin D in adults affected by thalassemia major or intermedia. Bone 2006;38:888–92.
   PubMed Web of Science ®Google Scholar
• Tsitoura S, Amarilio N, Lapatsanis P, Pantelakis S, Doxiadis S. Serum 25-hydroxyvitamin D levels in thalassaemia. Arch Dis Child 1978;53:347–8.
   PubMed Web of Science ®Google Scholar
• Aloia JF, Ostuni JA, Yeh JK, Zaino EC. Combined vitamin D parathyroid defect in thalassemia major. Arch Intern Med 1982;142:831–2.
   PubMed Web of Science ®Google Scholar
• Dandona P, Menon RK, Houlder S, Thomas M, Hoffbrand AV, Flynn DM. Serum 1,25 dihydroxyvitamin D and osteocalcin concentrations in thalassaemia major. Arch Dis Child 1987;62:474–7.
   PubMed Web of Science ®Google Scholar
• Dusso AS, Brown AJ, Slatopolsky E. Vitamin D. Am J Physiol Renal Physiol 2005;289:F8–28.
   PubMed Web of Science ®Google Scholar