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

Malihe Najafpour; Majid Farshdousti Hagh; Ako Azimi; Milad Zadi Heydarabad; Peyman Balekdari; Aylin Jahanban Esfahlan; Amin Ghasemi; Saiedeh Ganbarjeddi

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Original Article
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
Malihe Najafpour¹, Majid Farshdousti Hagh², Ako Azimi³, Milad Zadi Heydarabad⁴, Peyman Balekdari⁵, Aylin Jahanban Esfahlan⁶, Amin Ghasemi⁷, Saiedeh Ganbarjeddi⁸
¹Medical Biotechnology Research Center, Paramedical School of Langroud, Guilan University of Medical Sciences, Rasht, Iran ²Drug Applied Research Center, Tabriz University of Medical Sciences, Tabriz, Iran ³Department of Basic Sciences, Maragheh University of Medical Sciences, Maragheh, Iran ⁴Medicinal Plants Research Center, Yasuj University of Medical Sciences, Yasuj, Iran ⁵Razi Hospital of Baneh, Kurdistan University of Medical Sciences, Sanandaj, Iran ⁶Department of Nursing, School of Nursing and Midwifery, Maragheh University of Medical Sciences, Maragheh, Iran ⁷Student Research Committee, Maragheh University of Medical Sciences, Maragheh, Iran ⁸School of medicine, Karazin Kharkiv National University, Kharkiv, Ukraine
CJMB 2020; 7: 393-397 Viewed : 20642 times Downloaded : 2909 times. Keywords : Vitamin D receptor, Fok-I polymorphism, Thalassemia, Renal insufficiency
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Abstract

Objectives: 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. Materials and Methods: 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. Results: 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. Conclusions: 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.