title: CTLA-4 gene polymorphism and its association with Graves' disease in the Lebanese population.
abstract: Graves' disease is an organ-specific autoimmune disease that has a female predominance. It is probably the result of a complex interaction of genetic and environmental factors. This disease is characterized by immune system activation, evidenced by elevated serum thyroid-specific autoantibodies and lymphocytic infiltration of the target organ (the thyroid gland), associated with raised levels of circulating activated T lymphocytes. Several reports have demonstrated genetic linkage and association between the genetic markers of the CTLA-4 gene on chromosome 2q33 and Graves' disease. In order to confirm this association in the Lebanese population, a bi-allelic A/G polymorphism at position 49 of CTLA-4 exon 1 was studied in 34 patients with Graves' disease, and in 38 healthy individuals, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The results showed a significant increase in allele and genotype frequencies in patients with Graves' disease compared to controls. This suggests that the CTLA-4 gene might play a role in the development of Graves' disease in the Lebanese population.
authors.affiliation: Beirut Arab University, Faculty of Pharmacy, Department of Pharmacology, Lebanon.
authors.forename: H
authors.initials: H
authors.lastname: Nakkash-Chmaisse
authors.forename: R F
authors.initials: RF
authors.lastname: Makki
authors.forename: E
authors.initials: E
authors.lastname: Abdelhamid
authors.forename: H
authors.initials: H
authors.lastname: Fakhoury
authors.forename: N N
authors.initials: NN
authors.lastname: Salti
authors.forename: I
authors.initials: I
authors.lastname: Salti
mesh_terms: D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006111:Graves Disease / Q000235:genetics* / Q000276:immunology; D007861:Lebanon / Q000453:epidemiology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen