Analysis of the association of polymorphisms CASR and VDR with the development of nephrolithiasis in patients with primary hyperparathyroidism

Abstract

Pathogenesis of nephrolithiasis (NL) at PHPT is not fully understood. Meanwhile, the detection of NL patients with PHPT is an absolute indication for parathyroidectomy. Conducted various studies aimed at finding a predictor of NL patients with PHPT. Actively study the role of genetic markers, particularly genes that regulate calcium-phosphorus metabolism.Objective — to assess the relationship of polymorphisms CASR and VDR with the development of the NL at PHPТ.Material and methods. A study to include 203 patients with confirmed PHPT, out of which 114 patients had the NL and 87 patients without NL. All patients were studied indicators calcium-phosphorus metabolism, the study of the level of PTH, vitamin D, the filtration function of the kidneys. All patients were studied indicators calcium-phosphorus metabolism, the level of PTH, vitamin D, the filtration function of the kidneys. The study of gene polymorphisms VDR (FokI, TaqI, BsmI, ApaI, Cdx2) was performed in 169 patients (113 with NL, 56 without NL) by polymerase chain reaction followed by restriction analysis; Study 3 polymorphisms CASR (A986S, R990G, Q1011E) was performed in 187 patients (110 with NL, 77 without NL), by direct sequencing.Results. No significant differences in the frequency of genotypes and alleles studied genes between the two groups has been received. According to logistic regression analysis, the only predictor of NL is the level of ionized calcium.Conclusions. The studied genes can not be used as predictors of the NL. May need to investigate other genes.