Literature DB >> 19815671

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

Lavanya Kamesh1, Joanne M Heward, Julie M Williams, Stephen C L Gough, Konstantia-Maria Chavele, Alan Salama, Charles Pusey, Caroline O S Savage, Lorraine Harper.   

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.

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Year:  2009        PMID: 19815671     DOI: 10.1093/rheumatology/kep280

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN: 1462-0324            Impact factor:   7.580


  11 in total

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