Document Detail

Fok-I gene polymorphism of vitamin D receptor in patients with beta-thalassemia major and its effect on vitamin D status.
MedLine Citation:
PMID:  21269569     Owner:  NLM     Status:  MEDLINE    
Most of the biological actions of vitamin D are mediated by an intracellular receptor (VDR) in which several single nucleotide gene polymorphisms have been identified. Vitamin D deficiency is increasingly identified among thalassemic patients and recent evidence links it with myocardial iron accumulation. The aim of this work was to assess the distribution of the Fok-I polymorphism of the VDR gene among Greek children and young adults with beta-thalassemia major and to investigate its association with 25(OH)D(3) and 1,25(OH)(2)D(3) serum levels. Sixty-nine thalassemic patients (35 females and 34 males), with a mean age of 23·05±6·07 years, participated in the study. Genotype frequencies of Fok-I were similar to those previously reported for other populations; 44·9% of the patients were homozygotes for F allele, 43·5% were heterozygotes and 11·6% were homozygotes for the f allele. Low levels of serum 25(OH)D(3) were recorded, as 41 patients (59·4%) were below the cut-off limit of 50 nmol/l that determines deficiency, whereas, levels of 1,25(OH)(2)D(3) showed wide variability ranging from deficiency (≤50 pmol/l) in 34 patients (49·3%) to excess (≥125 pmol/l) in 13 patients (18·8%). When stratifying patients according to serum 1,25(OH)(2) D(3) concentrations, a higher prevalence of the f allele was observed in the deficiency group (P = 0·03). A comparison of the serum concentrations of the two vitamin D metabolites produced a trend towards a negative correlation (r = -0·204, P = 0·09). Further studies are required to assess the genetic contribution to the regulation of vitamin D metabolites in the serum of patients with beta-thalassemia major.
Meropi Dimitriadou; Athanasios Christoforidis; Liana Fidani; Marina Economou; Vassilios Perifanis; Ioanna Tsatra; George Katzos; Miranda Athanassiou-Metaxa
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Hematology (Amsterdam, Netherlands)     Volume:  16     ISSN:  1607-8454     ISO Abbreviation:  Hematology     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-28     Completed Date:  2011-07-21     Revised Date:  2011-08-26    
Medline Journal Info:
Nlm Unique ID:  9708388     Medline TA:  Hematology     Country:  England    
Other Details:
Languages:  eng     Pagination:  54-8     Citation Subset:  IM    
1st Paediatric Department, Medical School, Aristotle University of Thessaloniki, 21 Athanasiou Soulioti str., Thessaloniki, Greece.
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MeSH Terms
Polymorphism, Genetic
Receptors, Calcitriol / genetics*
Vitamin D / blood*,  genetics
Young Adult
beta-Thalassemia / blood*,  genetics*
Reg. No./Substance:
0/Receptors, Calcitriol; 1406-16-2/Vitamin D

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