Abstract
Pharmacogenetic testing, that is promising technology for personalized medicine, is already being introduced into clinical practice. Pharmacogenetic approach is especially necessary when prescribing treatment for patients with osteoporosis, because anti-osteoporotic drugs effect can be assessed only after 12 months or more after therapy start. On this basis, aim of study was to estimate alendronic acid effectiveness in women with postmenopausal osteoporosis depending on rs2234693 polymorphism of estrogen receptor type 1 gene (ESR1). Material and methods. 136 patients were included to research. The studies in women were performed twice - before and 12 months after osteoporosis treatment, that included alendronic acid standard doses. Evaluation of 12-month therapy effectiveness was carried out according to bone mineral density increase based on X-ray osteodensitometry. Genotype of rs2234693 polymorphism of ESR1 gene was determined by real-time PCR. Results. Women with postmenopausal osteoporosis after alendronic acid 12-month course demonstrated significant (p<0.001) mineral density increase in various parts of skeleton - lumbar vertebrae L1-L4 (4.26% [1.00; 6.95]), left proximal region and femoral neck (2.76% [0.00; 5.95] and 2.42% [-1.41; 5.53], respectively) and right ones (3.76%[-0.20; 6.65] and 3.27% [0.00; 7.18], respectively). Patients with TT genotype of ESR1 gene rs2234693 polymorphism had lower (p<0.05) increase in mineral density of lumbar vertebrae L1-L4 (2.53% [-0.28; 5.54]) compared to all other patients (4.71% [1.75; 8.08]) or to women with CC genotype (5.52% [1.66; 9.12]). Conclusion. rs2234693 polymorphism of ESR1 gene testing in patients with postmenopausal osteoporosis before antiosteoporotic drugs prescription should be used for individualization of treatment regimens and therapy effectiveness enhancement.
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