Exon 2 Vitamin D Receptor (Fok-I) Gene Polymorphism and the Evaluation of its Correlation With Renal Dysfunction in Patients With β-Thalassemia Major in East Azerbaijan Province of Iran

Several studies have shown that major beta-thalassemia patients suffer from renal dysfunction. Genetic is one of the crucial factors in this phenomenon. Accordingly, this study aimed to evaluate the correlation between renal dysfunction and Fok-I polymorphism in the vitamin D receptor (VDR) gene of major beta-thalassemia patients.

Sixty thalassemic patients and sixty healthy individuals were involved in this case-control study. Robust renal and urine analyzes were done in terms of performance evaluation. Finally, genotype assessment for Fok-I polymorphism was performed via the polymerase chain reaction-restriction fragment length polymorphism method.

In general, renal dysfunction embracing proteinuria and hyperfilteration were observed in the thalassemic group. As regards patients" genotype frequencies, 51.6%, 36.6%, and 11.6% were homozygous for F allele (FF), heterozygous (Ff), and homozygous for f allele (ff), respectively. Eventually, the frequencies of FF and Ff alleles were 49.1% and 50.8%, respectively, in normal group l.

Our data suggested that there is no correlation between renal dysfunction and Fok-I polymorphism in major beta-thalassemic patients. Thus, further studies are needed about plausible pathways involved in renal dysfunction, to demonstrate the motives of renal dysfunction in major beta-thalassemia patients