Polymorphisms of interleukin-23 receptor in patients with inflammatory bowel disease in a Croatian tertiary center [Polimorfizmi interleukin-23 receptora u pacijenata s upalnim bolestima crijeva u Hrvatskom tercijarnom centru]

Mihaljević, Silvio and Kibel, Aleksandar and Štefanić, Mario and Glavaš-Obrovac, Ljubica and Takač, Boris and Krznarić, Željko and Samardžija, Marina and Pinotić, Ljerka and Milas, Josip and Segec, Ivan (2013) Polymorphisms of interleukin-23 receptor in patients with inflammatory bowel disease in a Croatian tertiary center [Polimorfizmi interleukin-23 receptora u pacijenata s upalnim bolestima crijeva u Hrvatskom tercijarnom centru]. Collegium Antropologicum, 37 (4). pp. 1171-1177. ISSN 0350-6134

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Abstract

The Interleukin-23 signalling pathway is important for the differentiation of TH17 lymphocytes and is involved in the pathogenesis of Inflammatory bowel disease. Polymorphisms in the IL-23 receptor gene were previously found to be associated with Inflammatory bowel disease in various populations. The aim of this study was to determine whether the specific rs11209026 and rs7530511 single-nucleotide polymorphisms in the Interleukin-23 receptor gene are associated with Crohn's disease and ulcerative colitis in a Croatian patient population. A total of 50 patients with Crohn's disease and 93 patients with ulcerative colitis, as well as 99 healthy control subjects were included in the study. The results determined a significantly higher occurrence of rs11209026 in control group compared to patients with inflammatory bowel disease, suggesting a protective effect of this polymorphism. The rs11209026 variant was strongly associated with Crohn's disease, but it was absent in ulcerative colitis. However, there was no significant association between the rs7530511 polymorphism with either ulcerative colitis or Crohn's disease. Associations presented in this study give potentially important insight into the roles of specific Interleukin-23 receptor polymorphisms in Crohn's disease pathogenesis in the Croatian population.

Abstract in Croatian

Interleukin-23 signalni put je važan u diferencijaciji TH17 limfocita i uključen je u patogenezu upalnih bolesti crijeva. Polimorfizmi interleukin-23 receptora u ranijim istraživanjima povezivani su s upalnim bolestima crijeva u različitim populacijama. Cilj ovog istraživanja bio je odrediti povezanost specifičnih rs11209026 i rs7530511 polimorfizama pojedinačnog nukleotida (eng. single nucleotide polymorphism) interleukin-23 receptora s Crohnovom bolešću i ulceroznim kolitisom u hrvatskoj populaciji pacijenata tercijarnog kliničkog centra. Ukupno 50 pacijenata s Crohnovom bolešću i 93 pacijenta s ulceroznim kolitisom, kao i 99 zdravih kontrolnih ispitanika uključeno je prospektivno. Rezultati ukazuju na značajno veću pojavnost rs11209026 polimorfizma u zdravih ispitanika u odnosu na pacijente s upalnim bolestima crijeva, što sugerira protektivan učinak ovog polimorfizma. Kada se analiziraju posebno pacijenti s Crohnovom bolešću i s ulceroznim kolitisom, povezanost je bila značajna za Crohnovu bolest, ali odsutna za ulcerozni kolitis. rs7530511 polimorfizam, međutim, nije bio značajno povezan niti s Crohnovom bolešću niti s ulceroznim kolitisom. Povezanosti s polimorfizmima prikazane u ovom istraživanju predstavljaju potencijalno važan uvid u uloge polimorfizama interleukin-23 receptora u patogenezi Crohnove bolesti u hrvatskoj populaciji.

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