Rheumatology

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CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis
Rheumatology, 10/12/09

Kamesh L et al. – Results of this study provide 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

• 222 white Caucasians of UK origin with SVV
• 670 ethnically matched controls
• CTLA-4 CT60 (exon 4), +49 (exon 1) and –318 (promoter region) genotypes determined by PCR and restriction fragment length polymorphism (RFLP)

• CTLA-4 exon 1 (+49) and 4 (CT60) polymorphisms associated with SVV
• Both disease-susceptible and disease-protective haplotypes identified in cohort
• Frequencies similar in subtypes of WG and microscopic polyangiitis

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Association of mannose-binding lectin gene polymorphisms with Kawasaki disease in the Japanese
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