Tyrosine kinase-2 gene polymorphisms are associated with ulcerative colitis and Crohn's disease in Turkish Population

Background and objective: Inflammatory bowel disease is a group of chronic inflammatory conditions affecting gastrointestinal tract. Lots of genes have been identified resulting in susceptibility to inflammatory bowel disease. Any polymorphism leading to functional modifications in tyrosine kinase-2 may precipitate excessive immune response in the intestinal mucosa. The aim of our study is to investigate the involvement of tyrosine kinase-2 polymorphisms in the patients with inflammatory bowel disease in Turkish population.

Methods: Four single nucleotide polymorphisms in tyrosine kinase-2 (rs280523, rs2304256, rs280519 and rs280496) were genotyped in 60 Crohn's disease, 151 ulcerative colitis patients and 89 unrelated healthy controls. These polymorphisms were detected by real-time polymerase chain reaction.

Results: The presence of genotype (CC) in rs2304256 and (AA) in rs280519 were found to increase the susceptibility to ulcerative colitis (P=0.024, 0.025, respectively). rs2304256 (CA) and rs280519 (AG) have provided protection against ulcerative colitis (P=0.021, 0.012, respectively). rs280519 (AG) was protective against Crohn's disease (P=0.045). rs2304256 (CC) increased the susceptibility to inflammatory Crohn's disease (P=0.014). The presence of rs2304256 (A) increased the susceptibility to perianal Crohn's disease (P=0.03). Both rs280519 and rs2304256 polymorphisms were associated with the requirement of corticosteroid and immunosuppressive therapy in ulcerative colitis.

Conclusion: This study is the first demonstration of the single marker association of tyrosine kinase-2 polymorphisms with ulcerative colitis and Crohn's disease in Turkish population. They may be effective in the etiology of inflammatory bowel disease in our population. Disparity between our study and others may be related to ethnic differences.