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Fok-I polymorphism of vitamin D receptor gene and the presence of renal dysfunction in patients with β-thalassemia major.

TitleFok-I polymorphism of vitamin D receptor gene and the presence of renal dysfunction in patients with β-thalassemia major.
Publication TypeJournal Article
Year of Publication2011
AuthorsDimitriadou, M., Christoforidis A., Economou M., Teli A., Printza N., Tzimouli V., Tsatra I., Fidani L., Papachristou F., & Athanassiou-Metaxa M.
JournalPediatr Hematol Oncol
Volume28
Issue6
Pagination509-16
Date Published2011 Sep
ISSN1521-0669
KeywordsAdolescent, Adult, Alleles, beta 2-Microglobulin, beta-Thalassemia, Biological Markers, Calcium, Child, Child, Preschool, Cystatin C, Female, Gene Frequency, Genotype, Glomerular Mesangium, Humans, Kidney Diseases, Male, Polymorphism, Restriction Fragment Length, Proteinuria, Receptors, Calcitriol
Abstract

Recent evidence supports the presence of renal dysfunction even among young patients with β-thalassemia major. However, the possible genetic contribution has never been investigated. The aim of this study was to correlate the presence of Fok-I polymorphism of the vitamin D receptor gene with abnormal levels of early markers of renal impairment in children and young adults with thalassemia. Thirty-four patients (19 male and 15 female) with β-thalassemia major on conventional treatment, with a mean decimal age of 14.62 ± 5.47 years (range: 5-22 years), were included in the study. Markers of renal function were determined in serum and in urine and patients were genotyped for Fok-I gene polymorphism. Genotype frequencies were similar to those previously reported for other populations: 47.06% of the patients were homozygous for the F allele, 41.18% were heterozygous, and 11.76% were homozygous for the f allele. A considerable number of patients demonstrated impaired renal function with increased serum cystatin C levels (29.41%), glomerular dysfunction with proteinuria (68%), as well as significant tubulopathy with hypercalciuria (73.08%), and increased levels of urinary β(2)-microglobulin (29.41%). When patients were stratified according to Fok-I polymorphism, a significantly higher prevalence of abnormally increased serum levels of cystatin C was observed in patients being homozygous for the f allele (75%) compared with those being heterozygous (Ff) or homozygous for the F allele (14.29% and 31.25%, respectively, P = .02). Further studies are needed to confirm these preliminary results and elucidate the possible mechanisms involved.

DOI10.3109/08880018.2011.579231
Alternate JournalPediatr Hematol Oncol
PubMed ID21762013

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