Investigation of risk factors for glucocorticoid-induced (GI) osteoporosis, which is one of the most frequent and serious complications of long-term systemic glucocorticoid (SGC) therapy for bronchial asthma, is a topical issue of preventative medicine. In the present work, allele-specific hybridization on a biochip was used to determine the allele and genotype frequencies of eight candidate genes for GI osteoporosis in 137 patients with bronchial asthma receiving long-term SGC therapy. The MTHFR polymorphism 677C>T showed a significant association with the proximal femur mineral density (Z-score) in patients treated with SGC (nonparametric Kruskal-Wallis ANOVA, p = 0.0013). On the other hand, carriers of the null genotype by the GSTM1 insertion-deletion polymorphism had lower bone mineral density Z-scores than carriers of at least one functional GSTM1 allele (Mann-Whitney U-test with the Bonferroni correction, p = 0.034). Analysis of gene-gene interactions showed that the MTHFR 677C/C/GSTM1 null genotype combination was associated with significantly lower bone mineral density Z-scores than other genotype variants (Kruskal-Wallis ANOVA, p = 0.0012). Thus, the MTHFR and GSTM1 alleles can modulate the risk of GI osteoporosis in patients with bronchial asthma, which is very important for the identification of patients at a high risk of osteoporosis among individuals receiving SGC, as well as inhaled glucocorticoids.

We investigated the polymorphism of the gene p53 exon 4 Arg72Pro and intron 3 ins/del 16 b. p. in children with juvenile idiopathic arthritis in order to identify the influence of gene polymorphisms on the course and outcome of the disease. The children were divided into several groups according to the sex, type of articular lesion and the effectiveness of treatment. The main criteria of therapy effectiveness was defined as achieving "inactive" arthritis as well as a clinical (pharmacologic) remission. The correlation between p53 gene genotypes among girls with oligo-, polyarthritis of juvenile idiopathic arthritis was shown for the first time. The data obtained demonstrates the necessity for further studies of the correlation between genotype p53 and juvenile idiopathic arthritis.

Background. Risk factors of cardiovascular diseases play an important role in the cognitive dysfunction (CD) progression. Objective. To determine allelic variants frequencies caused by ACE I/D ( rs4646994 ) polymorphism as well as the SLC6A4 L/S ( rs4795541 ) and A/G ( rs25531 ) polymorphisms in patients with different intensity of metabolic syndrome and CD. Design and methods. Fifty five participants underwent anthropometric measurements, blood tests (glucose, lipids), molecular genetic analysis (polymerase chain reaction, restriction fragments length polymorphism) and neuropsychological tests. Results. Allelic variant D of ACE gene as well as allelic variants S and L G of SLC6A4 gene are associated with metabolic syndrome progression. CD progression is associated with allelic variants S and L G of SLC6A4 gene, but not with allelic variants of ACE gene.

The densitometry of cosmonauts after long-term missions shows a reduction of bone mineral density (BMD). On average, the postflight BMD remains within the normal range and the broad variability of individual BMD values is sometimes regarded as local osteopenia. Individual reactions are classified by the similarity of amount and rate of BMD loss.

We investigated the polymorphism of the gene p53 exon 4 Arg72Pro and intron 3 ins/del 16 b. p. in children with juvenile idiopathic arthritis in order to identify the influence of gene polymorphisms on the course and outcome of the disease. The children were divided into several groups according to the sex, type of articular lesion and the effectiveness of treatment. The main criteria of therapy effectiveness was defined as achieving "inactive" arthritis as well as a clinical (pharmacologic) remission. The correlation between p53 gene genotypes among girls with oligo-, polyarthritis of juvenile idiopathic arthritis was shown for the first time. The data obtained demonstrates the necessity for further studies of the correlation between genotype p53 and juvenile idiopathic arthritis.

Address: 1State Pediatric Medical Academy, Saint-Petersburg, Russian Federation, 2Scientific and Research Institute of Hematology and Transfusiology, Saint-Petersburg, Russian Federation, 3Federal Center of Heart, Blood and Endocrinology, named by V.A. Almazov, SaintPetersburg, Russian Federation and 4Federal Scientific and Clinical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation * Corresponding author

The association of the polymorphism of the VDR, Col1a1 , and CALCR genes with a form of osteoporosis frequently occurring as a consequence of intense physical exercise in athletes was studied. Biochemical parameters of bone remodeling and its neuroendocrine regulation, as well as the bone masses, of 22 amateur athletes were determined immediately before a strenuous nine-week training cycle (TC) and eight months later. The possible association of these factors with the polymorphism of the genes coding for bone tissue proteins was studied. Long-term intense physical training was found to be associated with a significant activation of bone tissue resorption accompanied by continued rapid synthesis. Nevertheless, and in spite of the strong activation of resorption caused by the TC, the athletes exhibited no osteoporosis (even eight months after the discontinuation of the TC); some of them, however, displayed an individual tendency to osteopenia. According to the results of genetic analysis, this was associated with the polymorphism of predisposition genes (genotype TT of the VDR gene and the functionally weakened s allele of the Col1a1 gene).

До и после интенсивных силовых тренировок (9 недель) по трём различным протоколам у 22 спортсменов-любителей изучали: изменения биохимических маркёров костного ремоделирования, его нейроэндокринную регуляцию, костную массу до и после тренировочного цикла (ТЦ). Установлено, что длительная интенсивная физическая нагрузка сопряжена со значительной активацией процессов резорбции костной ткани в сочетании с сохранением высокого уровня синтетических процессов. Тем не менее сравнительно короткая продолжительность экспериментальных тренировок, как и следовало ожидать, не выявила их существенного влияния на показатели МПК всех исследованных участков скелета. Обнаруженные слабо выраженные тенденции могут рассматриваться как случайные флюктуации, не выходящие за пределы технической точности

We studied the dependence of climatotherapy effectiveness in patients with chronic heart failure (functional classes 0-II) on Ca2+-ATPase, phospholamban, β1-adrenoceptor, and insulin-like growth factor 1 gene polymorphisms and possible interaction of these genes during the realization of the effect of climatotherapy. The effectiveness of climatotherapy depended on polymorphism of the studied genes; the maximum effect was attained in patients with the GG polymorphism of the Ca2+-ATPase gene, GT polymorphism of the phospholamban gene, ArgGly polymorphism of the β1-adrenoceptor gene, and 19/19 polymorphism of the insulin-like growth factor 1 gene. We demonstrated additive interaction of Ca2+-ATPase and β1-adrenoceptor genes during the realization of the cardiotonic effect of climatotherapy.

Для оценки прогноза нежелательного действия приема системных глюкокортикоидов (СГК) возможно проведение генетического тестирования предрасположенности к развитию глюкокортикоид!индуцированного остеопороза. Данная работа посвящена изучению ассоциации TaqI полиморфизма гена рецептора витамина D (VDR) с показателями минеральной плотности костной ткани (МПКТ) и развитием переломов осевого и периферического скелета у больных тяжелой бронхиальной астмой (БА), длительно принимающих СГК. Анализ проводился у 54 больных БА (15 мужчин и 39 женщин в возрасте до 50 лет, женщины в пременопаузе). МПКТ поясничного отдела позвоночника и проксимального отдела бедренной кости измерена методом DXA на аппарате " Hologic QDR-4500A ". Методом ПДРФ проанализированы частоты генотипов и аллелей гена VDR (TT-, Tt- и tt- генотипы, T и t аллели - Taq I полиморфизма). Независимо от возраста, суточной и кумулятивной доз, длительности приема СГК пациенты с tt - генотипом имели более низкие показатели МПКТ и чаще переносили переломы, чем пациенты с ТТ - и Tt - генотипами ( p < 0,001). Тестирование полиморфизма гена VDR расширит возможности раннего, досимптоматического выявления пациентов группы высокого риска развития глюкокортикоид!индуцированного остеопороза.

Studies on the genetics have focused on the regulation of bone mineral density (BMD) a major predictor of osteoporotic fracture risk. Evidence for a genetic contribution to BMD regulation comes primarily from twin studies thats hawed that between 5070 % of variance in BMD is caused by genetic factors. A great deal of research has been done on gene candidate VDR.3 on 176 postmenopausal women (108 natural menopause and 69 surgical menopause). Polymorphisms of vitamin D receptor have been associated in our group with the speed of bone turnover, registries by DEXA with interval 12 months and DDR test. The every second patient with genotype tt has chance to accompany group with osteoporosis in postmenopausae. In group of women with highs speed of bone turnover frequency t allel in 3 time more than in group with slow bone turnover.