Vitamin D receptor BsmI and TagI gene polymorphisms in a Turkish ESRD population: influences on parathyroid hormone response.

BACKGROUND

Clinical presentation and complications of end-stage renal disease patients are influenced by many environmental and genetic factors. In this study we sought to define the frequencies of BsmI and TagI vitamin D receptor gene polymorphisms and their influences on clinical presentations in the Turkish end-stage renal disease population.

METHODOLOGY AND PATIENTS

Hemodialyzed patients (n = 186; 111 male, 75 female) were genotyped for the insertion/deletion BsmI (B --> b, restriction site, exon VIII --> IX), TagI (T --> t, 352 exon IX) vitamin D receptor gene polymorphisms. The previous 12 months of laboratory values (C-reactive protein, intact parathyroid hormone, albumin, calcium, phosphorus, CaxP product) and clinical findings (vitamin D requirement, body weight) were analyzed retrospectively.

RESULTS

Mean age and follow-up periods were 42.1 +/- 12.6 years and 76.3 +/- 43.9 months, respectively. Polymorphism percentages were BsmI; BB/Bb/bb: 28.9/65.3/5.8% and TagI; TT/Tt/tt: 36.7/60.5/2.8%, respectively. Further analysis revealed that the TT variant of TagI was related to hyperparathyroidism (P < .05). Analysis of the data after regrouping patients according to iPTH levels (0 to 249; 250 to 499; > or =500 pg/mL) and hemodialysis duration (<60 versus > or =60 months) revealed an influence of TT variation on hyperparathyroidism as a function of increased hemodialysis duration and higher iPTH levels (P < .005).

CONCLUSION

TT variants of the TagI vitamin D receptor gene influence the development of hyperparathyroidism in hemodialysis patients, an influence that becomes more evident in patients with longer hemodialysis duration.