THE miR-196a2T/C VARIANT AS A POSSIBLE PREDISPOSING FACTOR FOR ANKYLOSING SPONDYLITIS IN A TURKISH POPULATION

Öz

Objective: Ankylosing spondylitis (AS) is a chronic inflammatory disorder. Micro RNAs (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 χ2 test. Results: The frequency of T/C and T/T genotypes of the miR196a2T/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). Conclusion: The miR-196a2T/C variant represents a genetic risk factor for increased susceptibility to AS and is associated with enthesitis in the Turkish population.

Anahtar Kelimeler

• Ankylosing spondylitis,miR-196a2,variant,enthesis

TÜRK POPÜLASYONUNDA ANKİLOZAN SPONDİLİTE YATKINLIK SAĞLAYICI FAKTÖR OLARAK miR-196a2T/C VARYANTI

Öz

Amaç: Ankilozan spondilit (AS) kronik, enflamatuar bir hastalıktır. MikroRNA’lar (miRNAlar) onkogen veya tümör baskılayıcı genler olarak fonksiyon yapabilirler. Çeşitli hastalıkların patogenezinde miRNA ekspresyonunun değişmesi bulunmaktadır. Bu nedenle, Türk toplumunda AS yatkınlığında miR-196a2T/C (rs11614913) varyant profilinin etkilerini araştırmayı amaçladık. Gereç ve Yöntem: 78 AS hastası ve 79 kontrolden kan örnekleri toplandı. miR-196a2T/C varyantı PCR-RFLP ile genotiplendi. χ2 testi kullanılarak %95 güven aralığı ile Odds oranı (OR) hesaplandı. Bulgular: miR-196a2T/C T/C ve T/T genotipleri AS hastalarında sağlıklı kontrollere kıyasla daha yüksekti (sırasıyla, p=0.034 and p=0.028). miR-196a2T/C varyant T/T genotipini taşıyan kişiler kontrol grubundan 2,542 kat artmış AS riski gösterdiler. Ancak, miR-196a2T/C allele frekansları açısından AS hastaları ve kontroller arasında fark saptanmadı. miR-196a2T/C varyant C/C genotipinin entezitli AS hastalarında entezit bulunmayan AS hastalarından daha çok olduğu bulundu (p=0.042). Sonuç: miR-196a2T/C varyantı Türk toplumunda AS ve hastalığın entezit ile ilişkisine yatkınlık sağlayan genetik risk faktörü rolü göstermektedir.

Anahtar Kelimeler

• Ankilozan spondilit,miR-196a2,varyant,entezit

Kaynakça

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