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.

[Rare MEFV mutations in patients with henoch schonlein purpura from north west of country]

Background and Objectives: coexistence of Familial Mediterranean Fever [FMF] with various systemic vasculitides, such as Henoch Schonlein Purpura [HSP] and other inflammatory disorders has been reported and MEFV gene has been suggested to play a significant role in the pathogenesis of this association. In This study, the rare MEFV mutations in patients with HSP from north west of country and its association with clinical symptoms of disease were evaluated

Material and Methods: Forty unrelated patients were referred by specialists to the Molecular Medical Genetic Center of Tabriz. Clinical diagnosis of HSP was made according to published criteria. The control group consists of 200 ethnically matched persons apparently healthy without any king of inflammatory diseases. screening for the 3 mutations; R761H, P396S and R408Q were performed by using amplification refractory mutation system polymerase chain reaction [ARMS-PCR[and polymerase chain reaction restriction fragment length polymorphism [PCR-RFLP]. Chi[2] test and Fisher's exact test were used to statistical analysis

Results: Of 40 patients studied, 37 [92.5%] showed without mutation, while 3 [7.5%] had MEFV mutation that three of them were compound heterozygous for the P396S/R408Q mutations. There was a statistically significant difference between the patient group and healthy individuals regarding P396S and R408Q mutations [p= 0.0043]. findings suggest that P396 and R408Q mutations always together occurred and not only contribute to the susceptibility to HSP, also associated with clinical symptom of fever

Conclusion: Our results suggest that some MEFV mutations could be a contributory genetic factor to HSP in the north west of the country

association of SMUG1 gene polymorphism with age-related macular degeneration in Northwestern Iran

Age-related macular degeneration [AMD] is the most common cause of irreversible vision loss and debilitating disease in old age, which involves the central retina/macula among elderly patients. The genetic and environmental factors have important role in this multifactorial disease. Oxidative stress and DNA damages would have important impact on the onset and progression of AMD. In this study, the possible association of c.-31A>G [rs3087404] polymorphism in the promoter region of SMUG1 gene with AMD disease was investigated. Fifty five AMD patients and 130 healthy age-, gender- and ethnicity-matched unrelated people as control group were genotyped by restriction fragment length polymorphism PCR [RFLP-PCR]. Both groups were from Northwest of Iran [Tabriz]. Statistical analysis showed a significant association of AG genotype of this polymorphism with AMD. These results suggest a possible protective effect of this genotype for AMD disease [P=0.02, OR=0.574] among patients from Northwest of Iran. This genotype was observed more frequently in controls compared to the patients [59.23% v s 45.45%]

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.