Objective: Kawasaki disease (KD) is a systemic vasculitis of unknown etiology and primarily affects children less than 5 years of age. Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) has been suggested as a candidate gene for conferring susceptibility to autoimmunity. This study examined the correlation of CTLA-4 gene polymorphisms in KD with and without coronary artery lesions (CAL). Materials and methods: A total of 233 KD patients and 644 controls were subjected to determination of CTLA-4 polymorphisms at (-318) C/T and (+49) A/G positions by restriction fragment length polymorphism. Susceptibility, CAL, and intravenous immunoglobulin treatment response of KD were then analyzed with genetic variants. Results: Polymorphisms of CTLA-4 (+49 A/G) and (-318 C/T) were not significantly different between normal children and patients with KD. The CTLA-4 (+49) A allele (AA+AG genotype), however, was significantly associated with CAL formation, especially in female patients. Conclusions: This study provides the first evidence supporting the association of CTLA-4 (+49) A/G polymorphism with the CAL formation of KD particularly in female patients.
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