Fok-I polymorphism of vitamin D receptor gene and the presence of renal dysfunction in patients with β-thalassemia major.
Τίτλος | Fok-I polymorphism of vitamin D receptor gene and the presence of renal dysfunction in patients with β-thalassemia major. |
Publication Type | Journal Article |
Year of Publication | 2011 |
Authors | Dimitriadou, M., Christoforidis A., Economou M., Teli A., Printza N., Tzimouli V., Tsatra I., Fidani L., Papachristou F., & Athanassiou-Metaxa M. |
Journal | Pediatr Hematol Oncol |
Volume | 28 |
Issue | 6 |
Pagination | 509-16 |
Date Published | 2011 Sep |
ISSN | 1521-0669 |
Λέξεις κλειδιά | Adolescent, 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. |
DOI | 10.3109/08880018.2011.579231 |
Alternate Journal | Pediatr Hematol Oncol |
PubMed ID | 21762013 |