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    Is Complement Factor H Tyr402His Variant a Potential Cause of Ankylosing Spondylitis?
    (2020) Pehlivan, Sacide; Akaltun, Mazlum Serdar; Pehlivan, Mustafa; Gürsoy, Savaş; Nursal, Ayşe Feyda
    Aim: Ankylosing spondylitis (AS) is an autoimmune disease caused by chronic inflammatory response. Complement system is the major component of the innate immune defence. In this study, we investigated the potential association between complement factor H (CFH) gene Tyr402His variant (rs1061170) with AS in a Turkish population. Methods: Seventy-eight AS patients and 80 healthy individuals were enrolled in the present study as case and control subjects, respectively. The Tyr402His variant of CFH gene was analysed by PCR-RFLP method. Results: There was no statistically significant difference between AS patients and healthy controls in terms of CFH Tyr402His genotype and allele frequencies. However, the visual analogue scale (VAS) daytime and the AS Quality of Life (ASQoL) were significantly different according to CFH Tyr402His genotype distribution (p=0.032 and p=0.036, respectively). VAS of daytime and ASQoL were higher in subjects carrying Tyr402His variant Tyr/Tyr + Tyr/His genotypes compared to those carrying His/His genotype. Conclusion: This is the first study evaluating the association between CFH Tyr402His and susceptibility to AS in a Turkish population. Although CFH Tyr402His variant was not considered a candidate gene for AS susceptibility in our samples, some clinical findings seem to be associated with genotype distribution of CFH Tyr402His variant.
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    Öğe
    THE miR-196a2T/C VARIANT AS A POSSIBLE PREDISPOSING FACTOR FOR ANKYLOSING SPONDYLITIS IN A TURKISH POPULATION
    (2020) Pehlivan, Sacide; Gürsoy, Savaş; Nursal, Ayşe Feyda; Akaltun, Mazlum Serdar; Özdilli, Kürşat; Pehlivan, Mustafa
    Objective: Ankylosing spondylitis (AS) is a chronic inflammatory disorder. MicroRNAs (miRNAs) can function as either oncogenes or tumor suppressor genes. Altered miRNA expression has been implicated in the pathogenesis of several diseases. Therefore, we aimed to explore the effects of miR-196a2T/C (rs11614913) variant profile on susceptibility to AS in a Turkish population. Materials and Methods: Blood samples were collected from 78 AS patients and 79 healthy controls. miR-196a2T/C variant was genotyped by PCR-RFLP. Odds ratio (OR) with 95% confidence interval (95%CI) were calculated using the ?2 test. Results: The frequency of T/C and T/T genotypes of the miR- 196a2T/C were higher in AS patients compared to healthy controls (p=0.034 and p=0.028, respectively). The subjects carrying the miR-196a2T/C variant T/T genotype showed a 2.542-fold increased AS risk than the control group. However, no difference was observed in the allele frequencies of miR-196a2T/C between AS patients and the controls. It was found that C/C genotype of miR-196a2T/C variant was more frequent in AS patients with enthesitis than AS patients without enthesitis (p=0.042). factor for increased susceptibility to AS and is associated with enthesitis in the Turkish population.