Fok-I Polymorphism of Vitamin D Receptor Gene and the Presence of Renal Dysfunction in Patients with β-Thalassemia Major

Autor:	Miranda Athanassiou-Metaxa, Nikoleta Printza, Ioanna Tsatra, Aikaterini Teli, Meropi Dimitriadou, Vasiliki Tzimouli, Liana Fidani, Fotis Papachristou, Marina Economou, Athanasios Christoforidis
Rok vydání:	2011
Předmět:	Adult Male medicine.medical_specialty Adolescent Genotype Thalassemia Gene Frequency Tubulopathy Internal medicine Humans Medicine Hypercalciuria Cystatin C Allele Child Allele frequency Alleles biology business.industry beta-Thalassemia Hematology medicine.disease Glomerular Mesangium Genotype frequency Proteinuria Endocrinology Oncology Child Preschool Pediatrics Perinatology and Child Health biology.protein Receptors Calcitriol Calcium Female Kidney Diseases Gene polymorphism beta 2-Microglobulin business Biomarkers Polymorphism Restriction Fragment Length
Zdroj:	Pediatric Hematology and Oncology. 28:509-516
ISSN:	1521-0669 0888-0018
DOI:	10.3109/08880018.2011.579231
Popis:	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.
Databáze:	OpenAIRE
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