Stromal interaction molecule 1 polymorphisms are associated with coronary artery dilation but not with aneurysm formation in patients with kawasaki disease

Background: Kawasaki disease (KD) is an autoimmune disease that is associated with systemic vasculitis and other cardiovascular disorders. Recent studies have shown that the calcium sensor, stromal interaction molecule 1 (STIM1), is a key molecule that modulates functioning of the immune system. In this study, the association of STIM1 polymorphisms with KD was investigated. Methods: The Han Chinese in Beijing reference population sample from the haplotype map database was analyzed and four tagging single nucleotide polymorphisms (SNPs; rs2304891, rs3750996, rs1561876, and rs3750994) located in the coding region of the STIM1 gene, with a minor allele frequency of 10% or more, were selected. TaqMan allelic discrimination assay was performed for genotyping 381 patients with KD. Results: By using a recessive model, our data demonstrated that the rs2304891 SNP in the STIM1 gene was significantly associated with coronary artery dilation in KD patients. However, there was no association between the assessed STIM1 SNPs and intravenous immunoglobulin treatment or the incidence of aneurysm. Conclusion: The present results show that a genetic polymorphism in the STIM1 gene (rs2304891) might be associated with coronary artery dilation, but not with resistance to intravenous immunoglobulin treatment or aneurysm formation, in the Taiwanese population.