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Background . Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. Our previous studies showed expression of  CD40  ligand on CD4+ T cells correlated to the coronary artery lesion (CAL) and disease progress in KD. Other studies from Japan suggested the role of  CD40L  in the pathogenesis of CAL, and this might help explain the excessive number of males affected with KD but cannot be reproduced by Taiwanese population. This study was conducted to investigate the  CD40  polymorphism in KD and CAL formation.   Methods . A total of 950 subjects (381 KD patients and 569 controls) were investigated to identify 2 tagging single-nucleotide polymorphisms (tSNPs) of  CD40  (rs4810485 and rs1535045) by using the TaqMan allelic discrimination assay.  Results . A significant association was noted with regards to  CD40  tSNPs (rs1535045) between controls and KD patients ( P  = 0.0405, dominant model). In KD patients, polymorphisms of  CD40  (rs4810485) showed significant association with CAL formation ( P  = 0.0436, recessive model). Haplotype analysis did not yield more significant results between polymorphisms of  CD40  and susceptibility/disease activity of KD.  Conclusions . This study showed for the first time that polymorphisms of  CD40  are associated with susceptibility to KD and CAL formation, in the Taiwanese population.

CD40Gene Polymorphisms Associated with Susceptibility and Coronary Artery Lesions of Kawasaki Disease in the Taiwanese Population