The CTLA4 + 49A/G and CT60 polymorphisms and chronic inflammatory arthropathies in Northern Ireland

• Published in: Experimental and molecular pathology Vol. 80; no. 2; pp. 141 - 146
• Main Authors: Suppiah, V., O'Doherty, C., Heggarty, S., Patterson, C.C., Rooney, M., Vandenbroeck, K.
• Format: Journal Article
• Language: English
• Published: Amsterdam Elsevier Inc 01.04.2006; Elsevier
• Subjects: 49 A/G; Adolescent; Alleles; Antigens, CD; Antigens, Differentiation - genetics; Arthritis, Rheumatoid - genetics; Biological and medical sciences; Case-Control Studies; Child; CT60; CTLA-4; CTLA-4 Antigen; Diseases of the osteoarticular system; Female; Genetic Predisposition to Disease - genetics; Haplotypes; Humans; Investigative techniques, diagnostic techniques (general aspects); Juvenile idiopathic arthritis; Male; Medical sciences; Miscellaneous. Osteoarticular involvement in other diseases; Northern Ireland; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Phenotype; Polymorphism, Genetic - genetics; Rheumatoid arthritis; Susceptibility; Northern Ireland; United Kingdom; Europe; 49 A/G; CTLA-4; CT60; Susceptibility; Rheumatoid arthritis; Juvenile idiopathic arthritis; Genetic variability; Diseases of the osteoarticular system; Autoimmune disease; Juvenile rheumatoid arthritis; Genotype; Inflammatory joint disease; Inflammation; Cytotoxic T lymphocyte antigen 4; Anatomic pathology; Chronic; Sensitivity; Arthropathy; Polymorphism
• ISSN: 0014-4800; 1096-0945
• DOI: 10.1016/j.yexmp.2005.09.004

Rheumatoid and juvenile idiopathic arthritis (RA, JIA) are chronic inflammatory arthropathies with an autoimmune background. The cytotoxic T-lymphocyte antigen-4 (CTLA-4) protein plays a key role in the down-regulation of T cell activation. We analyzed the CTLA4 +49A/G and CT60 polymorphisms in cohorts of Northern Irish RA and JIA patients and healthy control subjects using restriction fragment length polymorphism methods. The + 49 A allele was increased in RA (61.2%; P = 0.02; OR = 1.28; 95% C.I. = 1.04–1.58) and JIA (61.8%; P = 0.14) patients compared to the control population (55.3%). No significant association was observed for the CT60 polymorphism. Haplotype analysis revealed a significantly different distribution of + 49 A/G-CT60 haplotypes in RA and JIA patients compared to controls ( P value < 0.00001 and 0.030 for comparison of RA and JIA patients with controls, respectively). Our results suggest that the CTLA-4 gene is involved in predisposition to inflammatory arthropathies in the Northern Irish population.