ABSTRACT
Aim: The present study evaluated the association between G241R and K469E polymorphisms of intercellular adhesion molecule 1 gene and inflammatory bowel disease in Iranian population
Background: Inflammatory bowel disease including ulcerative colitis and Crohn's disease, is a chronic idiopathic inflammatory disease of the gastrointestinal tract. There are two single base polymorphisms of intercellular adhesion molecule 1gene, G241R and K469E, reported to be associated with inflammatory disorders
Patients and methods: In this case-control study, 156 inflammatory bowel disease patients [110 ulcerative colitis and 46 Crohn's disease patients] and 131 healthy controls were enrolled. Two polymorphisms of intercellular adhesion molecule 1gene, including G241R and K469E, were assessed by polymerase chain reaction followed by restriction fragment length polymorphism
Results: The E469 allele of K469E polymorphism was significantly more frequent in Crohn's disease patients compared to controls [P< 0.05, OR= 1.83; 95% CI: 1.13 to 2.96]. The mutant homozygote genotype of K469E polymorphism [E/E] was also significantly more frequent in Crohn's disease patients compared to controls [P< 0.05, OR= 4.23; 95% CI: 1.42 to 12.59]. No difference was observed in the frequency of K469E polymorphism among ulcerative colitis patients compared to controls. There were no significant differences in genotype and allele frequencies of G241R polymorphism among ulcerative colitis and Crohn's disease patients compared to control subjects
Conclusion: According to our findings, K469E polymorphism of intercellular adhesion molecule 1 gene may probably participate in the pathogenesis of Crohn's disease in Iran
ABSTRACT
Aim: We aimed to explore the frequency of BRAF V600E mutation in Iranian patients with colorectal cancer [CRC] as well as its association with clinic pathological characteristic of patients
Background: CRC is the third leading cause of cancer related death. There is a growing body of data showing the association of BRAF V600E mutation with malignant transformation and clinical outcome of different tumors, including CRC. These findings suggest that BRAF V600E mutation can be used as diagnostic and/or prognostic biomarker for management of cancer patients
Patients and methods: A total of 85 patients with sporadic tumor were recruited. Braf V600E mutation was investigated using sequencing of extracted DNAs from formalin-fixed paraffin-embedded [FFPE] tumor tissues. Electropherograms were analyzed using Laser-gene 6 software
Results: More than 95% of patients were in stage I and II and none of them were in stage IV. Patients were mostly below 55 years old and tumors were dominantly located in the distal colon. Of note, no BRAF V600E mutations were detected in our population
Conclusion: Our results showed no V600E mutation in the BRAF gene in stage I and II of CRC patients. Further studies in multi-center settings are warranted to examine the prognostic and/or predictive value of this marker in different stages of colorectal cancer patients