Glucocorticoid receptor gene polymorphism and juvenile idiopathic arthritis

<p>Abstract</p> <p>Background</p> <p>The 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 <it>Bcl</it>I 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.</p> <p>Methods</p> <p>One 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). <it>Bcl</it>I polymorphism was genotyped by polymerase chain reaction restriction fragment length polymorphism.</p> <p>Results</p> <p>No 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.</p> <p>Conclusions</p> <p>We suggest that G allele and the GG genotype of the glucocorticoid receptor gene <it>Bcl</it>I polymorphism contribute to an unfavorable course and low bone mineral density in girls with JIA.</p

PROGRAMMING OF SKELETAL DEVELOPMENT IN CHILDREN: THE ROLE OF VITAMIN D

Well known that the lack of vitamin D in mother leads to its deficiency in the fetus. Vitamin D deficiency in the fetus significantly increases the risk of disorders of calcium/phosphorus metabolism, decreases of size of ante - and postnatal skeleton of the child, and affects the child ’s growth, bone mineral density and increases the risk of fractures in working age

RISK FACTORS OF LOW BONE MINERAL DENSITY IN CHILDREN WITH CELIAC DISEASE

The study shows that the long-term non-adherence to glutenfree diet, growth retardation, biological maturation are factors that adversely affect the parameters of BMC and BMD. On gluten-free diet patients with celiac retain physiological principles of accumulation of the mineral and bone remodeling in the skeleton

CLINICAL PREDICTORS OF LOW BONE MINERAL DENSITY IN CHILDREN WITH JUVENILE IDIOPATHIC ARTHRITIS

The aim of this study was to assess the role of simple clinical and laboratorial markers for prediction of low bone mineral density (LBMD 5.0, DAS > 2.9, DAS28 > 4.2, JADAS 10 > 15.6, JADAS 27 > 15.1, CDAI > 18.1, Steinbrocker's functional class > 2, systemic arthritis, corticosteroid treatment, arthritis duration > 4.5 years, number of active joints > 5, number of painful joints > 9, morning stiffness > 90 minutes, parental overall JIA activity (VAS) > 5.8, ESR > 16 mm/h, CRP > 22.6 mg/l were associated with increased risk of LBMD in JIA children. Among metabolic markers Ca total 1.59 mmol/l also increased the possibility of LBMD. Our data can help to identify the JIA patients at risk for LBMD and to suggest the indications for densitometry evaluation of JIA children