ORIGINAL ARTICLES CLINICAL AND PROGNOSTIC SIGNIFICANCE OF MOLECULAR GENETIC FACTORS IN POSTMENOPAUSAL OSTEOPOROSIS

Aim. To identify gene polymorphisms (OPG, RANKL, VDR, SOST) and evaluate their relationship with bone mineral density (BMD) and fractures for further optimization of diagnosis and treatment of postmenopausal osteoporosis (PMO). Materials and methods. The study included 236 postmenopausal women living in Moscow and the Moscow region. The main group (I) consisted of 174 patients, aged 50 to 83 years, with BMD < - 2.5 SD for the T-score. The comparison group (II) consisted of 62 postmenopausal women with BMD within the normal range and the lack of previous fractures, aged 50 to 77 years. Molecular genetic analysis of polymorphisms of VDR (rs10735810, rs1544410), RANKL (rs9594738, rs9594759) and OPG (rs3102735, rs3102735 and rs4355801), SOST (rs1230399) was performed by polymerase chain reaction in all subjects with PMO and in the control group. Results. In the presence of the T allele of the gene RANKL (rs9594759 and rs9594738) risk of reduced BMD at L1-L4 was increased by 2 times. Women with genotype C/C gene polymorphism of OPG (rs3102735) the risk of fractures of the distal radius (PR) was increased by 17 times, regardless of BMD. Genotype G/G rs1544410 polymorphism of VDR gene in patients with PMO is associated with an increased risk of fractures of the distal radius by three times. In patients with PMO genotype C/C in gene SOST (rs1230399) only cause differences in body mass index. According to an autosomal recessive pattern, homozygous genotype C/C was significantly associated with obesity in the PMO. Conclusions. Polymorphisms of genes RANKL (rs9594759 and rs9594738), OPG (rs3102735) and VDR (rs1544410) are associated with the risk of fractures and PMO. Gene SOST (rs1230399) had no statistically significant effect on BMD and fracture risk.

postmenopausal osteoporosis, polymorphisms, bone mineral density, genotype, fractures, sclerostin, vitamin D, osteoprotegerin, RANKL

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