BackgroundThe glucocorticoid receptor gene (NR3C1) has been suggested as a candidate gene affecting juvenile idiopathic arthritis (JIA) course and prognosis. The purpose of this study is to investigate the glucocorticoid receptor gene BclI polymorphism (rs41423247) in JIA patients, the gene's role in susceptibility to juvenile idiopathic arthritis, and its associations with JIA activity, course and bone mineralization.MethodsOne hundred twenty-two Caucasian children with JIA and 143 healthy ethnically matched controls were studied. We checked markers of clinical and laboratory activity: morning stiffness, Ritchie Articular Index (RAI), swollen joint count (SJC), tender joint count (TJC), physician's visual analog scale (VAS), hemoglobin level (Hb), leukocyte count (L), platelet count (Pl), Westergren erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), albumin, DAS and DAS28. Bone mineralization was measured by dual-energy X-ray absorptiometry (DXA) of lumbar spine L1-L4. Assessments of bone metabolism included osteocalcin, C-terminal telopeptide (CTT), parathyroid hormone (PTH), total and ionized calcium, inorganic phosphate and total alkaline phosphatase (TAP). BclI polymorphism was genotyped by polymerase chain reaction restriction fragment length polymorphism.ResultsNo association was observed between glucocorticoid receptor gene polymorphism and the presence or absence of JIA. In girls with JIA, the presence of the G allele was associated with an unfavorable arthritis course, a younger age of onset of arthritis (p = 0.0017), and higher inflammatory activity. The higher inflammatory activity was demonstrated by the following: increased time of morning stiffness (p = 0.02), VAS (p = 0.014), RAI (p = 0.048), DAS (p = 0.035), DAS28 (p = 0.05), Pl (p = 0.003), L (p = 0.046), CRP (p = 0.01). In addition, these patients had bone metabolism disturbances as follows: decreased BA (p = 0.0001), BMC (p = 0.00007), BMD (0.005) and Z score (p = 0.002); and higher levels of osteocalcin (p = 0.03), CTT (p = 0.036), TAP activity (p = 0.01) and ionized calcium (p = 0.017). In boys with JIA, no significant differences were observed related to the polymorphic alleles or genotypes.ConclusionsWe suggest that G allele and the GG genotype of the glucocorticoid receptor gene BclI polymorphism contribute to an unfavorable course and low bone mineral density in girls with JIA.

We studied the dependence of climatotherapy effectiveness in patients with chronic heart failure (functional classes 0-II) on Ca(2+)-ATPase, phospholamban, beta1-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 Ca(2+)-ATPase gene, GT polymorphism of the phospholamban gene, ArgGly polymorphism of the beta1-adrenoceptor gene, and 19/19 polymorphism of the insulin-like growth factor 1 gene. We demonstrated additive interaction of Ca(2+)-ATPase and beta1-adrenoceptor genes during the realization of the cardiotonic effect of climatotherapy.

Objective. Тс determine allelic variants frequencies caused by Apo E polymorphism in patients with metabolic syndrome and cognitive dysfunction (CD). Design and methods. 54 participants had undergone anthropometric measurements, blood examination (glucose, cholesterol and triglycerides), molecular genetic analysis (polymerase chain reaction, restriction fragments length polymorphism) and neuropsychological tests. Results. Allelic variant s4 of Apo E is an unfavourable factor contributing to the development of CD, depression, anxiety disorders. Allelic variant s2 of Apo E is protective factor in relation to the development of depression.

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The allele rates of VDR, Collal and CALCR genes in 174 non-related individuals Northwest Russian population and in 70 patients with severe osteoporosis (SO) were investigated by PCR-RFLP method. The frequency of functionally abnormal allele t of VDR gene in a group of SO patients was Sl,4±5,9%, and it was significantly higher (p<0,001) than this one in population (32,6±4,9%). Analysis of Collal gene proved significant preponderance (p<0,0001) of functionally abnormal allele s in SO patients (50,0±5,9%) compared to its average frequency in population (17,5±4,9%). No significant differences (p>0,05) between frequencies of functionally abnormal T allele of CALCR gene in SO (84,4±4,9%) patients and its average frequency in population were recorded (73,8±3,9%). Thus, according to our data clear-cut association between functionally abnormal alleles of VDR and Collal genes and osteoporosis