Rheumatol Int (2009) 30:285–289 DOI 10.1007/s00296-009-1134-x 123 SHORT COMMUNICATION TNF- gene polymorphisms in Iranian Azeri Turkish patients with Behcet’s Disease Mortaza Bonyadi · Zohreh Jahanafrooz · Mohsen Esmaeili · Susan Kolahi · Alireza Khabazi · Ali Asghar Ebrahimi · Mehrzad Hajialilo · Saeed Dastgiri Received: 23 April 2009 / Accepted: 13 September 2009 / Published online: 23 September 2009  Springer-Verlag 2009 Abstract Genetic factors that predispose individuals to Behcet’s disease (BD) are considered to play an important role in the development of the disease. The serum level of tumor necrosis factor (TNF) is elevated in patients with BD, and a dramatic response to anti-TNF- antibody treat- ment further supports the role of TNF in BD. We investi- gated the distribution of TNF- promoter ¡1031T/C and ¡308G/A polymorphisms in 53 BD patients of Iranian Azeri Turks and 79 matched healthy controls, via the PCR– RFLP technique. The frequency of the TNF- ¡1031C allele was signiWcantly higher in Behcet’s patients than in healthy controls (p < 0.0001, OR = 3.08; 95% CI = 1.73– 5.47), whereas the frequency of the TNF- ¡308A allele was similar in the two compared groups. The frequency of CG haplotype was signiWcantly higher (p < 0.0001, OR = 3.42; 95% CI = 1.89–6.18), and that of the TA haplo- type was signiWcantly lower in BD patients than in healthy controls. These results suggest that TNF- is a susceptibility gene for BD in patients from Iranian Azeri Turk ethnic group. Keywords Behcet’s disease · TNF- · Polymorphism · Iranian Azeri Turks · Genetic susceptibility Abbreviations BD Behcet’s disease TNF- Tumor necrosis factor-alpha HLA Human leukocyte antigen PCR–RFLP Polymerase chain reaction–restriction fragment length polymorphism Introduction Behcet’s disease (BD) is a systemic vasculitis characterized by recurrent oral and genital ulcers, skin lesions, and uve- itis. Other manifestations may include arthritis, central ner- vous system disease, and gastrointestinal tract (GIT) disease with diarrhea and abdominal pain. Patients with BD may manifest all or only some of these clinical features depending on environmental factors and their genetic back- ground [1–3]. Behcet’s disease has been classiWed as an autoinXammatory disease (AID) because of the observed enhanced inXammatory response [4]. Although BD does not have the features of a classical autoimmune disorder, an antigen-driven immune response is seen in BD that possi- bly develops on the background of enhanced innate immune reactivity [4]. Familial aggregation of BD patients [5], association of HLA-B51 with BD, and peculiar geo- graphical distribution of this disease along the old silk route (running from the Mediterranean, through the Middle East, and to Asia including countries such as Turkey and Iran) [6] strongly support the contribution of genetic factors to M. Bonyadi (&) · Z. Jahanafrooz Medical-Molecular Genetics, Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran e-mail: jabbarpour@tabrizu.ac.ir M. Bonyadi · Z. Jahanafrooz · M. Esmaeili Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran S. Kolahi · A. Khabazi · A. A. Ebrahimi · M. Hajialilo Imam Reza Hospital, Rheumatology Ward, Faculty of Medicine, Medical University of Tabriz, Tabriz, Iran S. Dastgiri Department of Community and Family Medicine, School of Medicine, National Public Health Management Center, Tabriz University of Medical Sciences, Tabriz, Iran