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CT60 and+49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis

Kamesh, L; Heward, JM; Williams, JM; Gough, SCL; Chavele, KM; Salama, A; Pusey, C; ... Harper, L; + view all (2009) CT60 and+49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis. RHEUMATOLOGY , 48 (12) 1502 - 1505. 10.1093/rheumatology/kep280.

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Abstract

Objective. To investigate whether single nucleotide polymorphisms ( SNPs) within cytotoxic T-lymphocyte antigen-4 (CTLA-4) are associated with ANCA-associated small vessel vasculitis (SVV).Methods. The CTLA-4 CT60 (exon 4), +49 (exon 1) and -318 (promoter region) genotypes were determined by PCR and restriction fragment length polymorphism (RFLP) in 222 white Caucasians of UK origin with SVV and 670 ethnically matched controls.Results. The CTLA-4 exon 1 (+49) and 4 (CT60) polymorphisms are associated with SVV (+49: chi(2) = 10.965, P=0.004; CT60: chi(2) = 12.017, P=0.002). Both disease-susceptible and disease-protective haplotypes have been identified in this cohort, and their frequencies are similar in the subtypes of WG and microscopic polyangiitis.Conclusion. This study provides further evidence that CTLA-4, a susceptibility locus for a number of common autoimmune diseases, may also be involved in the development of ANCA-associated SVV.

Type: Article
Title: CT60 and+49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis
DOI: 10.1093/rheumatology/kep280
Keywords: Polymorphisms, Vasculitis, CTLA-4, AUTOIMMUNE THYROID-DISEASE, NECROSIS-FACTOR-ALPHA, WEGENERS-GRANULOMATOSIS, GENE POLYMORPHISMS, SUSCEPTIBILITY, DISORDERS, HAPLOTYPE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Nephrology
URI: http://discovery.ucl.ac.uk/id/eprint/79595
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