No abstract

Currently, the causes of extra-axial and extra-skeletal manifestations of ankylosing spondylitis (AS) and the possible impact of genetic aspects on its course and clinical features remain unresolved.Objective: to investigate the association of the polymorphic markers rs10050860 and rs17482078 in the ERAP1 gene and rs11209026 in the IL23R gene with the development and clinical manifestations of AS.Patients and methods. An allele-specific polymerase chain reaction assay was carried out to assess the alleles and corresponding genotypes of ERAP1 and IL23R gene polymorphisms in 70 patients (49 men and 21 women; mean age, 38 [31; 49] years) with AS and in 20 healthy donors. The activity indices, ESR, CRP, and extra-axial and extra-skeletal manifestations of AS were assessed in patients at the time of the investigation and in their history.Results and discussion. The results of genotyping showed a significant association of the studied markers with AS. The carriage of the C/T genotype of the polymorphic markers rs10050860 and rs17482078 in the ERAP1 gene was associated with the history of peripheral arthritis (p=0.029) and the presence of incomplete right bundle branch block (IRBBB) (p=0.003 and p=0.006); the carriage of the G/A genotype of the marker rs11209026 in the IL23R gene was significantly associated with psoriasis (p=0.017) and IRBBB (p=0.03) in patients with AS.Conclusion. The polymorphic markers of the ERAP1 and IL23R genes are associated with the risk of developing AS in this sample of patients. There is a significant correlation between the studied polymorphisms and some clinical manifestations of AS, which can be considered as a predictor of a more severe disease course.

The mechanism of osteoporosis (OP) development in systemic sclerosis (SSc) remains unclear.Objective: to assess bone mineral density (BMD) and the level of bone metabolism markers (osteocalcin — OC, — C-terminal type I collagen telopeptides — b-CrossLaps) in the blood serum of patients with SSc.Patients and methods. 65 patients with SSc were examined, 6 (9%) men and 59 (91%) women, the average age was 51 [39; 61] year (main group), and 35 healthy individuals comparable in anthropometric parameters (control group). In all individuals were assessed the most important populational risk factors for OP. BMD was determined using dual energy X-ray absorptiometry (DXA); the level of vitamin D, OC and b-CrossLaps in blood serum — by enzyme immunoassay.Results and discussion. A decrease in BMD was statistically significantly more common in patients with SSc (46, 71%), than in controls (11, 31%). Significant risk factors for OP in SSc were early menopause, low physical activity, hypovitaminosis D, and probably high activity and duration of the disease. In patients with SSc, there was a significant decrease in the level of OC compared with the controls; in patients with a reduced BMD, the content of OC was significantly less than in patients with normal BMD. The average values of b-CrossLaps in the main and control groups were comparable, but in patients with OP this parameter was lower than in those with normal BMD.Conclusion. In patients with SSc, OP develops statistically significantly more often than in healthy individuals. Risk factors for OP are early menopause, low physical activity, long duration and high activity of SSc. The predominance of bone formation impairment over bone resorption as a mechanism for the development of secondary OP was noted.