Endocrine Abstracts

Factors affecting the development of nephrolithiasis (NL) in primary hyperparathyroidism (PHPT) actively studied. CASR polymorphisms may be linked with the development of NL in PHPT. Supposed to the role of VDR in the development of nephrolithiasis in patients without PHPT.

Objective: To assess the relationship of polymorphisms CASR and VDR with the development of the NL at PGPT.

Methods: The study included 187 patients with PTPT (54 (49; 64) years), 110 with NL and 77 without NL. The study of polymorphisms CASR (R990G, A986S, and Q1011E). In 166 patients (110 with NL and 56 without NL) were analyzed polymorphisms VDR – ApaI, BsmI, FokI, Cdx2, and TaqI. The distribution of genotypes consistent with the condition of Hardy–Weinberg.

Results: The most common in both groups were polymorphisms R990G (23.6% vs 21.8%) and A986S (29.1% vs 37.9%), and Q1011E (16.4% vs 9.2%) met the most rare, the differences are not reliable (P>0.05). The genotype distribution was as follows CASR, with NL: AA-70.9%, AS-23.6%, SS-5.5%; RR-76.4%, RG-20.9%, GG-2.7%; QQ-83.6%, QE-14.5%, and GG-1.8%; without NL: AA-62.1%, AS-32.2%, SS-5.7%; QQ-90.8%, QE-8.0%, EE-1.1%, RR-78.2%, RG-19.5%, and GG-2.3%; not obtained differences in the frequency of genotypes and alleles CASR between the groups (P>0.05). VDR polymorphisms frequency did not differ between the groups (P>0.05). with NL: allele A-54.9%, a-45.1%; allele B-65.5%, b-34.5%; allele F-61.2%, f-38.8%; allele G 84.5%, A-15.5%; allele T-61.2%, and allele t-38.8%. In the group without NL: allele A-55.4%, a-45.5%; allele B-65.5%, b-59.6%; allele F-55.7%, f-44.3%; allele G-86.6%, A-13.4%; allele T-55.7%, and t-44.3%. The distribution of genotypes and alleles of VDR polymorphisms in the presence and absence of NL was not significantly different (P>0.05).

Conclusion: According to the results revealed a high prevalence of polymorphisms of VDR and CASR patients with PHPT. Development of NL is not associated with the presence of VDR polymorphisms and CASR.

Disclosure: The work was supported by grant of President of Russian Federation Н Ш -4527.2014.7.