engleski

Single nucleotide polymorphism in the STAT3 gene may influence susceptibility to UC and CD in a Croatian population

The Signal Transducers and Activators of Transcription(STATS) are intracellular effector molecules of cytokine-modulated signalling, which play important role in the development of the human immune system and haematopoiesis, and are involved in the regulation of T-cell survival. STAT3, a master regulator of Th17 and FoxP3+Treg polarization, was recently associated with increased risk of ulcerative colitis (UC) and Chron’s disease (CD). Aim was to investigate whether a functional single nucleotide polymorphism (SNP) in the STAT3 gene is likely to be important for UC and CD risk in a Croatian population, and whether its phenotypic relationship could provide useful clinical predictions. A total of 50 CD patients and 91 UC patients, as well as 95 healthy control subjects were included in the study. The intronic variant in the STAT3 gene (GenBank: NM 213662, rs744166) was genotyped using fluorescence resonance energy transfer technology and melting curve analysis of polymerase chain reaction products. The observed population allele frequencies in the controls were similar to those reported in other Caucasian populations (36.8%, G allele). No significant difference was observed in genotype and allele frequencies between the cases and controls (CD: odds ratio 1.29, 95% confidence interval 0.78–2.11, P = 0.322 ; UC: 0.86 (0.56–1.32), P = 0.502, allelic contrasts, G allele). No further associations were uncovered by inspection of secondary traits. Here, we have demonstrated that the STAT3 rs744166 variant is not associated with CD, UC susceptibility or disease severity in the Croatian population, but pathogenetic mechanisms remain to be further evaluated. The STAT signalling pathway remains a potential therapeutic target for the development of new treatment options for UC and CD.

STAT3; gene; polymorphism; inflammatory bowel disease; Croatia

DOI: 10.1111/jgh.12363_2