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
This retrospective study is aimed to review demographic and clinical characteristics of IBD to elucidate the probable factors associating with IBD development in Taleghani Hospital in Iran since 2001 during a 12-year-period. Ulcerative colitis [UC] and Crohn's disease [CD] are two major idiopathic entities of inflammatory bowel disease [IBD]. Previous studies have reported an increased incidence of IBD in Middle East countries. In the present study 1914 patients with UC, 318 patients with CD and 25 with indeterminate colitis [IC] were included. Demographic information, clinical features, extraintestinal manifestations, complications and extension of disease were collected and interpreted for all participants. According to the time of registration, patients were divided into seven groups. Statistical analysis was performed using the chi-square test. In seven groups of IBD patients, disease registry was estimated for UC, CD, and total IBD during a 12-year-period. From 2001 to 2005, a relative increased registry was observed among UC patients. However, in the years 2006 and 2007 a significant reduction in the number of patients was reported. Then an increasing trend was observed in UC patients. UC presented mostly with diarrhea, hematochezia and bloody diarrhea, while most of CD patients complained of abdominal pain. Evaluation of data related to registered IBD patients in Iran shows that probable incidence and prevalence of IBD [UC and CD] is increasing compared to previous decades
ABSTRACT
Inflammatory bowel disease [IBD] is a chronic disease of unknown etiology, in which genetic factors, seem to play an important role in the disease predisposition and course. Assessment of tumor necrosis factor [TNF- alpha] gene polymorphisms in many populations showed a possible association with IBD. Considering the genetic variety in different ethnic groups, the aim of the present study was to investigate the association of five important single nucleotide polymorphisms [SNPs] in the promoter region of [TNF- alpha] gene with IBD in Iran. In this case-control study, 156 Ulcerative colitis [UC] patients, 50 Crohn's disease [CD] patients and 200 sex and age matched healthy controls of Iranian origin were enrolled. The study was performed during a two year period [2008-2010] at Taleghani Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. DNA samples were evaluated for [TNF- alpha] gene polymorphisms [including -1031, -863, -857, -308 and -238] by PCR and RFLP methods. The frequency of the mutant allele of -1031 polymorphism was significantly higher in Iranian patients with Crohn's disease compared to healthy controls [P=0.01, OR=1.92; 95% CI: 1.14-3.23]. None of the other evaluated polymorphisms demonstrated a significant higher frequency of mutant alleles in Iranian IBD patients compared to controls. Among the five assessed [SNPs], only -1031 polymorphism of [TNF- alpha] gene may play a role in disease susceptibility for Crohn's disease in Iran. This pattern of distribution of [TNF- alpha] gene polymorphisms could be specific in this population
ABSTRACT
Despite the reported role of three common mutations of the CARD15/NOD2 gene including R702W, G908R and 1007fs in Crohn's disease [CD], only about 30% of Iranian CD patients carry one of these three variants [R702W]. The aim of this study was to screen the hot points of NOD2 gene to find any novel sequence variations in Iranian patients with CD. Eighty non-related Crohn's patients from Iranian origin, referred to a tertiary center in a three-year period [2006-2009], were enrolled in this study. The hot points of NOD2 gene [including exons 4 and 8] were evaluated by direct sequencing after amplification of related sequences with polymerase chain reaction [PCR]. A total of 17 sequence variations were identified among these exons of NOD2 gene including 7 novel ones. Three of these new mutations had an allele frequency more than 5%. All new mutations were a consequence of a single nucleotide change, 4 resulted in an aminoacid change while one formed a stop coden. No deletion or insertion mutation was observed in this part of the gene. This study demonstrated the existence of uncommon NOD2 variants in Iranian patients with CD. It is possible that these mutations play a role in susceptibility to CD in Iranian population