title: Tumor necrosis factor-alpha gene promoter polymorphism in patients with familial Mediterranean fever.
abstract: The proinflammatory cytokine tumor necrosis factor-alpha (TNF-alpha) plays an important role on the course of disease in familial Mediterranean fever (FMF). TNF-alpha gene promoter polymorphism may be a marker of susceptibility and severity of FMF. The aim of this study is to evaluate both TNF-alpha/238 and TNF-alpha/308 genotypes and allelic distribution in patients with FMF. Forty-one FMF patients and 43 healthy volunteers were included in the study. Genomic DNA was extracted from EDTA-preserved whole blood of whole series of patients and controls. Polymorphism of TNF-alpha promoter at positions -238 and -308 were detected by using amplification refractory mutation system polymerase chain reaction. TNF-alpha/238 and TNF-alpha/308 genotype distributions and allele frequencies of FMF patients and healthy volunteers were found to be similar. Moreover, there was no association between TNF-alpha/238 and TNF-alpha/308 genotypes and the frequency of acute attacks in FMF. TNF-alpha/238 and TNF-alpha/308 promoter polymorphisms do not seem to be major genetic risk factors for susceptibility to FMF and severity of the disease.
authors.affiliation: Department of Gastroenterology and Hepatology, Ege University School of Medicine, Bornova, Izmir, Turkey.
authors.forename: Arzu
authors.initials: A
authors.lastname: Celebi Kobak
authors.forename: Senol
authors.initials: S
authors.lastname: Kobak
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Kabasakal
authors.forename: Ulus Salih
authors.initials: US
authors.lastname: Akarca
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000276:immunology; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D014409:Tumor Necrosis Factor-alpha