title: Cytotoxic T lymphocyte-associated antigen-4 polymorphism in patients with rheumatic heart disease.
abstract: Acute rheumatic fever (ARF) is a systemic inflammatory disease occurring as a consequence of an exaggerated immune response to group A, beta haemolytic streptococcal pharyngitis. The molecular mimicry between human target organs/tissues and specific components of the infectious organism leads to the development of autoimmune reactions and cardiac tissue damage in rheumatic heart disease (RHD). Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is a negative regulator of T cell activation and proliferation during the immune response. CTLA-4 gene polymorphism has been shown to affect the inhibitory function of CTLA-4. We aimed to analyze the association of CTLA-4 gene locus at position 49 of exon 1 with susceptibility to ARF/RHD. This study included a total of 98 patients with RHD as a sequela of ARF, who fulfilled the revised classification criteria of Jones and 154 healthy unrelated controls. CTLA-4 +49 A/G polymorphism was genotyped by using PCR-RLFP technique. Data was analyzed by binary logistic regression models. The frequencies of GG, GA and AA genotypes were found to be 14%, 47% and 39%, respectively, in patients and 6%, 45% and 49%, respectively, in controls. The GG genotype was found to be significantly different between patients and controls (OR: 3.11; P = 0.016). GA and AA genotypes did not statistically differ between patients and controls. Our data showed a significant association of +49G /G polymorphism in a small patient group with RHD.
authors.affiliation: Department of Clinical Immunology and Rheumatology, Faculty of Medicine, Ankara University, Ankara, Turkey.
authors.forename: N
authors.initials: N
authors.lastname: Düzgün
authors.forename: T
authors.initials: T
authors.lastname: Duman
authors.forename: F E
authors.initials: FE
authors.lastname: Haydardedeoğlu
authors.forename: H
authors.initials: H
authors.lastname: Tutkak
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D060908:CTLA-4 Antigen; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D011110:Polymorphism, Genetic; D012214:Rheumatic Heart Disease / Q000235:genetics* / Q000276:immunology
chemical_list: D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human