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 role of trace elements (TEs) and their imbalance in the physiology of bone tissue and in the development of inflammatory diseases of the joints and spine has been discussed in recent years; however, there is no evidence for the TE status of patients with ankylosing spondylitis (AS) and its possible impact on the course of the disease.Objective: to investigate the impact of the TE status of patients with AS on the course, clinical manifestations, and activity of the disease.Patients and methods. Examinations were made in 58 patients (39 men and 19 women), residents of the Orenburg Region, with a reliable diagnosis of AS, the duration of which was 16 [11; 26] years. The patients’ mean age was 38 [31; 48] years. HLA-B27 antigen was detected in 91.4% of cases. In addition to the generally accepted examination, atomic absorption spectrophotometry was used to determine the hair levels of 9 TEs: Cu, Zn, Fe, Mn, Cr, Co, Ni, Pb, and Cd in all the patients.Results and discussion. The AS patients living in the Orenburg Region showed TE imbalance manifested by Cu and Zn deficiency and Ni, Cr, and Mn accumulation in the hair. Multidirectional correlations were found between the values of these TEs and the presence of extra-axial (peripheral arthritis, dactylitis) and extra-skeletal (uveitis) manifestations of AS, its activity, and severity of functional disorders.Conclusion. The preliminary results may suggest that the emerging imbalance of TEs can affect the course of AS, maintaining and increasing its activity.
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