Polymorphisms of Promoter Region of TNF-α Gene in Iranian Azeri Turkish Patients with Behçet's Disease

Behçet’s disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology. Alterations of the tumor necrosis factor (TNF) expression related to the polymorphic alleles of TNF gene may implicate a pathogenetic role in increased activity of this cytokine in BD. A current study aimed at investigating the possible association between BD and its clinical features in Iranian Azeri Turks with two functional TNF-α gene polymorphisms (at the positions of -238 and -857). A total number of 166 Iranian subjects were enrolled into two different groups; patients with BD (n = 64), and ethnically matched healthy controls (n = 101). The genotype distributions of BD patients and healthy controls were determined. The frequency of TNF-α -857C allele was significantly higher in Behçet’s patients than that of healthy controls (P = 0.001; odds ratio [OR] = 2.616; 95% confidence interval [CI] = 1.129–6.160), whereas the frequency of TNF-α -238A allele was similar in both groups. The sole TNF-α haplotype-857C-1031C, was associated with an increase in the risk of developing BD. The TNF-α -857C allele was considerably associated with BD in this cohort. The findings of this study, collectively, indicate that TNF-α -857C-1031C haplotype located in the promoter region of the gene could exert major influence on the susceptibility to BD.

[Common KRAS and BRAF mutations in colorectal cancer patients]

KRAS and BRAF gene mutations are considered as key events in carcinogenesis progression of colorectal cancer. Given the importance of these gene mutations evaluations, especially in metastatic patients, in terms of determination of therapeutic strategies, we studied the prevalence of KRAS and BRAF mutations in Tabriz city. Deoxyribonucleic Acid [DNA] extracted from Fresh tumor and normal tissues of 30 primary CRC patients. Direct sequencing method, was the method for determining the mutation points of KRAS exon 2 and BRAF exon 15 genes. After mutation analysis, the clinical and pathological associations of mutant genes were assessed. The prevalence of KRAS gene mutation was 20 %[6 out of 30 cases] in this study, and none of patients had the mutant BRAF gene. The odds ratio of the KRAS gene mutation in high grade CRCs was 2.1[95% CI: 1.34 to 3.29]. The same ratio for metastasis was 1.1[95% CI: 0.93 to 1.25]. There was no significant relationship between the mutation and clinical and pathological aspects of the disease. The high occurrence of early onset of colorectal cancer in Iran demands more attention to screening and prevention programs in the younger age group in the country. However further genetic studies are needed at the molecular level and large population in different geographical areas

Association of TNF-alpha -857 polymorphism with inflammatory bowel disease in a group of Iranian Azeri individuals

Inflammatory bowel disease [IBD] is a chronic, relapsing, inflammatory disorder of the gastrointestinal tract that includes two entities, Crohn's disease [CD] and ulcerative colitis [UC]. As with other complex diseases, both genetic susceptibility and environmental factors play role in the pathogenesis of these diseases. The tumor necrosis factor alpha [TNF-alpha] gene is located in the IBD3 region on chromosome 6p21 which is a good functional candidate for involvement in susceptibility to IBD. In addition, the promoter region of TNF-alpha contains various polymorphisms that have shown a significant association with IBD. In this case control study we investigated the TNF-alpha -857 polymorphism in 109 patients [89 UC and 16 CD] who suffered from IBD and 100 healthy age, sex and ethnicity matched adults selected from the same population, as the control group. The polymorphism was checked by amplification refractory system [ARMS] and polymerase chain reaction [PCR]. Investigation of the association of TNF-alpha -857 gene promoter polymorphism with both types of IBD showed no significant difference in genotype and allele frequencies of this polymorphism between UC patients and controls. However, a possible association of TNF-alpha -857 polymorphism [p=0.03] was identified with CD. TNF-alpha -857 polymorphism may have a role in the development of CD in the Iranian Azeri Turkish population.