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    
Abstract/OtherAbstract:
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.
Authors:
Meropi Dimitriadou; Athanasios Christoforidis; Liana Fidani; Marina Economou; Vassilios Perifanis; Ioanna Tsatra; George Katzos; Miranda Athanassiou-Metaxa
Related Documents :
22224029 - Different patterns of orbital roof involvement by cholesterol granuloma.
2146849 - Treatment with an lhrh analogue in patients with advanced pancreatic cancer. a prelimin...
21234699 - Vitamin d deficiency before bariatric surgery: should supplement intake be routinely pr...
76239 - Drug-associated primary acute pancreatitis.
19306409 - Assessment of iron distribution between liver, spleen, pancreas, bone marrow, and myoca...
16234029 - Is idiopathic chronic pancreatitis an autoimmune disease?
18558369 - Treatment of neuroblastoma with human natural antibodies.
6369509 - Small-bowel bacterial overgrowth in the postgastrectomy syndrome.
11676949 - Plasma nitric oxide level in heart failure secondary to left ventricular diastolic dysf...
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    
Affiliation:
1st Paediatric Department, Medical School, Aristotle University of Thessaloniki, 21 Athanasiou Soulioti str., Thessaloniki, Greece.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Female
Genotype
Humans
Male
Polymorphism, Genetic
Receptors, Calcitriol / genetics*
Vitamin D / blood*,  genetics
Young Adult
beta-Thalassemia / blood*,  genetics*
Chemical
Reg. No./Substance:
0/Receptors, Calcitriol; 1406-16-2/Vitamin D

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Incidence, etiology and bone marrow characteristics of non-chemotherapy-induced agranulocytosis.
Next Document:  Factor V Leiden and prothrombin gene mutations in Egyptian cases with unexplained recurrent pregnanc...