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BioMed Research International
Volume 2014, Article ID 513915, 6 pages
Research Article

The Role of CTLA-4 Exon-1 49 A/G Polymorphism and Soluble CTLA-4 Protein Level in Egyptian Patients with Behçet's Disease

1Rheumatology & Rehabilitation Department, Faculty of Medicine, Zagazig University, Zagazig 44511, Egypt
2Clinical Pathology Department, Faculty of Medicine, Zagazig University, Zagazig 44511, Egypt

Received 25 February 2014; Revised 30 April 2014; Accepted 18 May 2014; Published 2 June 2014

Academic Editor: Bijay Vaidya

Copyright © 2014 Sahar M. Abdel Galil and Hoda A. Hagrass. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


This study analyzed the association of the A/G SNP at position +49 of exon-1 in the CTLA-4 gene to the susceptibility and clinical manifestations of Behcet’s disease (BD). It was performed on 60 Egyptian BD patients and 95 age- and sex-matched healthy controls. The genotypes for the +49 A/G polymorphism of the CTLA-4 gene were determined by PCR-RFLP, while the serum level of CTLA-4 protein was measured by ELISA. CTLA-4 +49 A allele ( , , and CI (95%) = 1.90–4.99) and A/A genotype ( , , and CI (95%) = 2.58–17.10) frequency distribution was significantly more increased in patients than in the controls, with no significant differences between males and females with regard to the genotype or allele frequency distribution. A/A genotype was associated with a more reduced expression of sCTLA-4 protein in patients than in the controls ( versus , resp; ). In addition, it is associated with the occurrence of ocular and vasculitic manifestations of BD in the patient group. The CTLA-4 gene could be considered as a susceptibility and a disease-modifying gene to BD in Egyptian population that needs further confirmatory studies on larger cohorts.