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

Kamesh, Lavanya; Heward, Joanne M; Williams, Julie M; Gough, Stephen C L; Chavele, Konstantia-Maria; Salama, Alan; Pusey, Charles; Savage, Caroline O S; Harper, Lorraine.
Rheumatology (Oxford); 48(12): 1502-5, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19815671


To investigate whether single nucleotide polymorphisms (SNPs) within cytotoxic T-lymphocyte antigen-4 (CTLA-4) are associated with ANCA-associated small vessel vasculitis (SVV).


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.


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.


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.
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