Abstract
Background/Aim: Clinical presentation and complications of end‐stage renal disesase (ESRD) patients are under influence of many enviromental and genetic factors. In this study we aimed to define frequencies of BsmI and TagI Vitamin D receptor (VDR) gene polymorphisms and possible influences on clinical presentations in Turkish ESRD population. Methodology and Patients: 186 patients (111 male, 75 female) who are being maintained on hemodialysis were included. Genotyping was performed for the insertion/deletion BsmI (B→b, restriction site, exon VIII→IX), TagI (T→t, 352 exon IX) VDR gene polymorphisms. Last 12 months’ laboratory values (C‐reactive protein, intact parathyroid hormone, albumin, calcium, phosphorus, Ca x P product) and clinical findings (vitamin D requirement, body weight) were recorded and analysed retrospectively. Results: Mean age and follow‐up period lengths were 42.1 ± 12.6 years and 76.3 ± 43.9 months, respectively. Polymorphism percentages were as follows: BsmI; BB/Bb/bb: 28.9/65.3/5.8%, TagI; TT/Tt/tt: 36.7/60.5/2.8%, respectively. Further analysis revealed that TT variant of TagI was related with hyperparathyroidism (p < 0.05). Analysis of data after regrouping patients according to iPTH levels (0–249, 250–499, 500 + pg/mL) and hemodialysis duration (<60 vs ≥60 months) revealed that influence of TT variation on hyperparathyroidism became more frequent in case of increased hemodialysis duration and iPTH levels (p < 0.005). Conclusion: TT variation of TagI VDR gene influences the development of hyperparathyroidism in HD patients. This influence becomes more evident in patients with longer HD duration.
Published Version
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