title: The CTLA4+49A/G and CT60 polymorphisms and chronic inflammatory arthropathies in Northern Ireland.
abstract: 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.
authors.affiliation: Applied Genomics Research Group, School of Pharmacy, McClay Research Centre, The Queen's University of Belfast, Belfast BT9 7BL, Northern Ireland, UK.
authors.forename: V
authors.initials: V
authors.lastname: Suppiah
authors.forename: C
authors.initials: C
authors.lastname: O'Doherty
authors.forename: S
authors.initials: S
authors.lastname: Heggarty
authors.forename: C C
authors.initials: CC
authors.lastname: Patterson
authors.forename: M
authors.initials: M
authors.lastname: Rooney
authors.forename: K
authors.initials: K
authors.lastname: Vandenbroeck
mesh_terms: D000293:Adolescent; D000483:Alleles; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D009660:Northern Ireland; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human