Vitamin D Receptor Gene Polymorphism in Relation to PTH in Chronic Kidney Disease

Abstract

Background/Aim: Vitamin D is a fat-soluble steroid hormone that interacts with its nuclear receptor (VDR) to regulate a variety of biological processes, such as bone metabolism, immune response and transcription of several genes involved in chronic kidney disease (CKD).The aim of this work was to investigate the relation between vitamin D receptor genotype and parathyroid hormone (PTH) in predialysis patients and patient on hemodialysis. Method: We investigated theVDR Taq-I and VDR Bsm-I gene polymorphisms in 46 patients with chronic kidney disease under conservative treatment, 50 patients on hemodialysis and 70 age and sex matched healthy volunteers. This study was performed by restriction fragment length polymorphism (RFLP). Results: For the Taq-I polymorphism, the T allele is considered as the risk allele. Carrying T allele increases the risk for both chronic kidney disease and renal failure. The risk for CKD increases by 3.3 fold and the risk for renal failure by 8 folds. For the Bsm1 polymorphism, the A allele is considered as the risk allele. Carrying A allele increases the risk for CKD by 3.6 fold and the risk for renal failure by 8 folds. Conclusion: Bsm1 and Taq1gene polymorphisms of VDR gene were associated with end stage renal disease (ESRD) and with hyperparathyroidism among Egyptian population. Keywords: chronic kidney disease .vitamin D Receptor. Parathyroid hormone.

Vitamin D receptor gene polymorphisms in chronic kidney disease Egyptian children: effect on biochemical markers of bone mineral disorders

“…In Egyptian children, we found that the intronic SNPs of the genes Taq1 and Bsm1 to be significantly linked to CKD risk. This result was in agreement with previous Egyptian study [ 25 – 27 ]. Also, we had detected significant differences in VD levels in patients with the Taq1 GG genotype and the BsmI TT genotype of VDR gene.…”