Correlation between JAK2V617F mutation and inflammatory bowel disease in patients referring to Taleghani hospital, Tehran

Inflammatory bowel disease (IBD), including ulcerative colitis (UC) and Crohn's disease (CD), is a chronic inflammatory disorder of the gastrointestinal tract. Genome-wide association study (GWAS) has shown that some of the genes of interleukin-23/T-helper 17 (IL-23/Th17) pathway such as Janus kinase -2 (JAK2) predispose the risk of IBD. 46/1 haplotype is common risk factors for both IBD and myeloproliferative neoplasms disease. In view of this shared genetic predisposition, we aimed to determine the frequency of the JAK2V617F mutation in Iranians with IBD for the first time.
In this case-control study, 100 IBD patients including 18 with CD and 82 UC were compared with 100 healthy controls during 2011-2014. The genotypes were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) protocols and distribution of the JAK2 V617F mutations were compared in cases and control. To verify the method, patients with myeloproliferative neoplasms with JAK2V617F mutations were served as controls.
This study showed that JAK2V617F mutation was detected in neither patients nor controls. However, mutation was proved in all patients with myeloproliferative neoplasms that were used as positive control and their heterogeneities were determined.
This study showed that other genetic mechanisms may play an important role in the pathogenesis of IBD. For further evaluation of this mutation, other studies with a larger number of patients and complications such as thromboembolic diseases, is recommended.