Then we validated the implicated variants in expanded additional cases including patients with CD, UC and healthy controls. Results: We uncovered 294 shared complete identical variants in four Chinese CD patients, of which 26 were validated with Sanger sequencing. Further analyzed the differences of genotype frequency between cases and controls, we detected 3 variants (IFNA10 c.60 T > A, IFNA4 c.60 T > A, PMS2P3 c.67 C > T) are associated
with susceptibility to CD. The variants of IFNA10 and IFNA4 were significantly associated selleck chemical with resistance of steroids treatment in CD patients. Conclusion: We performed the exome-wide screening for the causative germline variants in Chinese Crohn’s disease patients, identified
three of new candidate gene variants of CD. These candidate genes may provide a clue to understand the genetic heterogeneity of CD and lead to better screening and improvement of treatment. Key Word(s): 1. CD; 2. exome sequencing; 3. susceptible gene; Presenting Author: METIN BASARANOGLU Corresponding Author: METIN BASARANOGLU Affiliations: TC Ankara Yüksek Ihtisas Hospital Objective: The development of colonic stenosis is a complication of Crohn’s disease (CD). We, here, presented a case with a long right colon and 2 short segment colonic stenosis diagnosed by barium follow through and colonoscopy and treated by 18 months adalimumab injection therapy and Selleck BMS354825 followed-up by clinically and radiologically. Methods: A 24-year-old male was admitted to our inflammatory bowel diseases clinic 11 years ago. His complaints were abdominal check details pain and bloody diarrhea. Further investigations showed Crohn’s ileo-colitis. Oral mesalazine 4 g/day and azotiopürine 125 mg/day was started. However, a few months later, he stopped to use azotiopürine. Nine
years ago, he was re-admitted with abdominal pain and diarrhea without bleeding. Careful examinations were performed. Then, oral mesalazine, azotiopürine plus short term steroid were started. Results: Four years ago, he stopped to use azotiopürine because of sperm quality and number. Three years ago, he defined abdominal with fever. His condition was not good. Colonoscopy failed because of active mucosal inflammation and non-obstructive stenosis in sigmoid colon. He again refused to use immunosüpresive agents. Two years ago, he was hospitalized because of abdominal pain, fever and bloody diarrhea. Abdominal tomograpy showed that the wall of the colon was thickened, particularly in the right colon with 22 mm, 12 mm in transvers colon and 9 mm in sigmoid colon. Small bowel contrast examination tickened distal ileum wall. Double contrast examination of the colon showed 3 strictures which involved in transvers, right and sigmoid colon (fig. 1 and fig. 2). The lenghts of the stricture were 3 cm, 6 cm and 2 cm, respectively.