Ankylosing spondylitis is a chronic inflammatory disease driven by enthesitis, progressive ossification and eventual ankylosis of affected joints, most prominently the spine and sacroiliac joints, which substantially reduces patients’ quality of life and highlights the need for early diagnosis and appropriate therapeutic decision making. A reliable biological marker for the disease is still lacking; although HLA B27 is routinely used, its limited diagnostic sensitivity and specificity motivate ongoing efforts to identify new biomarkers, particularly genetic ones. The aim of the master’s thesis was therefore to investigate, based on published literature, the prevalence of selected polymorphisms in a Slovenian cohort of patients with ankylosing spondylitis enrolled in the registry of the Department of Rheumatology at the University Medical Centre Ljubljana. DNA was isolated from whole venous blood samples of 106 patients, its concentration was assessed, and genotyping was performed using PCR and hydrolysis (TaqMan) probes. After reviewing registry data and excluding four patients due to revised diagnoses or treatment with a different drug class, 93 patients were included in the final analysis. Hardy–Weinberg equilibrium was evaluated to confirm sample representativeness and genotyping quality, and mutant allele frequencies for fourteen selected polymorphisms were calculated and compared with published data for the healthy European population. Across the genes ERAP1, ERAP2, TNF, TNFRSF1A, TNFRSF1B and MICA, eight polymorphisms showed higher mutant allele frequencies, suggesting a potential association with increased susceptibility to ankylosing spondylitis, with rs1799724 in the TNF gene and rs1051792 in the MICA gene standing out most clearly as markers of elevated risk. Six polymorphisms exhibited lower mutant allele frequencies, which may indicate a protective role. Genotype–phenotype analyses further revealed that the clinical form of the disease, whether purely axial or axial with peripheral involvement, was associated with variation in the MICA gene, while difficult to control disease and the occurrence of uveitis were linked to TNFRSF1A. These findings suggest that both genes may influence the clinical presentation of ankylosing spondylitis and provide a foundation for future research aimed at improving diagnostic precision and understanding disease mechanisms.
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