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HLA-B27 subtypes and tumor necrosis factor α promoter region polymorphism in Iranian patients with ankylosing spondylitis Volume 20, numéro 1, March 2009

Auteurs
Molecular Immunology Research Center, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran, Rheumatology Research Centre, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran, Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran

Background. HLA-B27 is an MHC class I molecule that is strongly associated with ankylosing spondylitis (AS). TNF-α, as an important cytokine in inflammatory joint disease, might have a role in the process of AS. This study was performed to determine HLA-B27 subtypes among Iranian patients with AS, and to investigate TNF-α gene polymorphisms in the patient groups. Methods. Ninety seven AS patients (74 HLA-B27-positive and 23 HLA-B27-negative) and 137 healthy normal subjects (2 HLA-B27-positive) were enrolled in this study. HLA-B27 positive patients were screened using the polymerase chain reaction, with sequence specific primers (PCR-SSP), for B*27 subtyping. All patients and the controls were also investigated for determination of TNF-α polymorphisms using the same method. Results. Just two subtypes were detected in our patients, namely B*2705 (63.4%) and B*2702 (36.6%). The study of TNF-α polymorphisms at position -238 showed that the A allele and AA genotype were significantly over-represented in all patient groups in comparison with the control group (p < 0.001). At position -308, while the A allele and AA genotype were significantly over-represented in the whole patient group (p = 0.01), there was no significant difference between the AS groups and the control group. Conclusion. It could be suggested that a polymorphism within the TNF-α gene at -238 play an important role in AS, although this polymorphism was not related to HLA-B27 subtypes.