Endocrine Abstracts

Clinical manifestations and severity vary considerably primary hyperparathyroidism (PHPT) patients. Several studies indicate that the variation of clinical manifestations PHPT may be associated with genetic factors, in particular the VDR gene polymorphisms and CASR. The purpose of this study was to evaluate the effect of VDR gene polymorphisms and CASR on indicators calcium and phosphorus metabolism, levels of 25(OH)D, PTH, and condition of bone density in patients with PHPT.

Methods: The study involved 187 patients with PGPT (median age 54 (49; 64) years, 160W/27M). The study of polymorphisms CASR (R990G, A986S, and Q1011E). In 166 (139W/27M) patients analyzed polymorphisms VDR – ApaI, Bstm, FokI, Cdx2, and Taq. The distribution of genotypes consistent with the condition of Hardy–Weinberg. All patients were investigated levels of total calcium, ionized calcium, phosphorus in the blood, alkaline phosphatase, calcium in daily urine, PTH, 25(OH)D, and densitometry three parts of the skeleton. 25(OH)D was investigated during the period from November to May.

Result: The analysis of polymorphisms of VDR revealed that polymorphisms FokI and BsmI influence the clinical manifestations PHPT. Carriers of FF genotype polymorphisms FokI level of 25(OH)D was significantly higher than that of genotype ff and Ff (P=0.014). In carriers bb genotype polymorphism Bsml level of β-cross laps and osteocalcin was lower than the combined genotype Bb+bb (P=0.036 and P=0.041) and higher mean values of BMD in the spine (P=0.038). Relationship with the calcium levels in the blood, urinary calcium or PTH has been received. There were no associations with different polymorphisms CASR indicators calcium and phosphorus metabolism, PTH, bone turnover markers, BMD in patients with PGPT.

Conclusion: The polymorphisms FokI and BsmI VDR may affect the clinic PGPT that is of interest, given the large variability manifestations PHPT. This result requires further study.

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