The influence of BsmI and TaqI vitamin D receptor gene polymorphisms on the intensity of hyperparathyroidism in Iranian hemodialysis patients


1 Isfahan Pharmaceutical Sciences Research Center, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan, Iran

2 Department of Nephrology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

3 Department of Clinical Biochemistry and Biotechnology, Isfahan University of Medical Sciences, Isfahan, Iran


Background: The influence of vitamin D receptor (VDR) gene polymorphisms on the regulation of the parathyroid hormone is important in end-stage renal disease (ESRD) patients. We analyzed rs1544410 (BsmI) and rs731236 (TaqI) polymorphisms of VDR gene in hemodialysis patients to determine their relationship with serum intact parathyroid hormone (iPTH).
Materials and Methods : Ninety hemodialysis patients were included in this study. Patients were classified into four groups according to their serum iPTH level. Polymorphisms of VDR gene were surveyed using polymerase chain reaction-restriction fragment length polymorphism method with BsmI and TaqI enzymes in all the patients.
Results : Patients age ranged between 30 and 60 years (mean ± SD: 36.0 ± 11.4) and period undergoing hemodialysis 80 ± 71 months. Patients were divided into four groups based on the serum concentration of iPTH. The distribution of VDR gene allelic variation for BsmI and TaqI polymorphisms was different between the four groups of uremic patients. Analysis of data revealed a significant correlation between the TaqI variants and serum iPTH level. There was also a correlation between the BsmI variants and serum iPTH level in that patients with the BB genotype were more likely to have a higher serum iPTH level. However, the latter was not statistically significant.
Conclusions: Genotype of the TaqI and BsmI VDR gene polymorphisms is reported in Iranian patients with ESRD. Those with tt or BB genotypes may develop more severe secondary hyperparathyroidism.


Drüeke TB. Genetic aspects of secondary hyperparathyroidism in uremia. Am J Kidney Dis 2001;38 Suppl 1:S143-6.  Back to cited text no. 1
Nagaba Y, Heishi M, Tazawa H, Tsukamoto Y, Kobayashi Y. Vitamin D receptor gene polymorphisms affect secondary hyperparathyroidism in hemodialyzed patients. Am J Kidney Dis 1998;32:464-9.  Back to cited text no. 2
Valdivielso JM, Fernandez E. Vitamin D receptor polymorphisms and diseases. Clin Chim Acta 2006;371:1-12.  Back to cited text no. 3
Szabo A, Merke J, Beier E, Mall G, Ritz E. 1,25(OH) 2 vitamin D3 inhibits parathyroid cell proliferation in experimental uremia. Kidney Int 1989;35:1049-56.  Back to cited text no. 4
Patel SR, Ke HQ, Hsu CH. Regulation of calcitriol receptor and its mRNA in normal and renal failure rats. Kidney Int 1994;45:1020-7.  Back to cited text no. 5
Brown EM, Wilson RE, Eastman RC, Pallotta J, Marynick SP. Abnormal regulation of parathyroid hormone release by calcium in secondary hyperparathyroidism due to chronic renal failure. J Clin Endocrinol Metab 1982;54:172-9.  Back to cited text no. 6
Brown SB, Brierley TT, Palanisamy N, Salusky IB, Goodman W, Brandi ML, et al. Vitamin D receptor as a candidate tumor-suppressor gene in severe hyperparathyroidism of uremia. J Clin Endocrinol Metab 2000;85:868-72.  Back to cited text no. 7
Block GA, Klassen PS, Lazarus JM, Ofsthun N, Lowrie EG, Chertow GM. Mineral metabolism, mortality, and morbidity in maintenance hemodialysis. J Am Soc Nephrol 2004;15:2208-18.  Back to cited text no. 8
Mohammadnejad Z, Ghanbari M, Ganjali R, Afshari JT, Heydarpour M, Taghavi SM, et al. Association between vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in Iranian population. Mol Biol Rep 2012;39:831-7.  Back to cited text no. 9
Ogunkolade BW, Boucher BJ, Prahl JM, Bustin SA, Burrin JM, Noonan K, et al. Vitamin D receptor (VDR) mRNA and VDR protein levels in relation to vitamin D status, insulin secretory capacity, and VDR genotype in Bangladeshi Asians. Diabetes 2002;51:2294-300.  Back to cited text no. 10
Carling T, Kindmark A, Hellman P, Lundgren E, Ljunghall S, Rastad J, et al. Vitamin D receptor genotypes in primary hyperparathyroidism. Nat Med 1995;1:1309-11.  Back to cited text no. 11
Tsukamoto Y, Heishi M, Nagaba Y, Kobayashi N, Nomura Y, Takahashi K, et al. More on hyperparathyroidism and the vitamin D receptor. Nat Med 1996;2:1162.  Back to cited text no. 12
Nagaba Y, Heishi M, Tazawa H, Tsukamoto Y, Kobayashi Y. Vitamin D receptor gene polymorphisms affect secondary hyperparathyroidism in hemodialyzed patients. Am J Kidney Dis 1998;32:464-9.  Back to cited text no. 13
Ozdemir FN, Sezer S, Atac B, Tutal E, Verdi H, Sahin F, et al. Vitamin D receptor BsmI and TagI gene polymorphisms in a Turkish ESRD population: Influences on parathyroid hormone response. Transplant Proc 2005;37:2922-4.  Back to cited text no. 14
Tagliabue J, Farina M, Imbasciati E, Vergani C, Annoni G. BsmI polymorphism of the vitamin D receptor gene in hyperparathyroid or hypoparathyroid dialysis patients. Am J Clin Pathol 1999;112:366-70.  Back to cited text no. 15
Tripathi G, Sharma R, Sharma RK, Gupta SK, Sankhwar SN, Agrawal S. Vitamin D receptor genetic variants among patients with end-stage renal disease. Ren Fail 2010;32:969-77.  Back to cited text no. 16
Carling T, Ridefelt P, Hellman P, Rastad J, Akerström G. Vitamin D receptor polymorphisms correlate to parathyroid cell function in primary hyperparathyroidism. J Clin Endocrinol Metab 1997;82:1772-5.  Back to cited text no. 17
Carling T, Kindmark A, Hellman P, Holmberg L, Akerström G, Rastad J. Vitamin D receptor alleles b, a, and T: Risk factors for sporadic primary hyperparathyroidism (HPT) but not HPT of uremia or MEN 1. Biochem Biophys Res Commun 1997;231:329-32.  Back to cited text no. 18