Abstract

Kawasaki disease (KD) is an acute, self-limited vasculitis of infants and young children that predominantly affects the coronary arteries. KD is the leading cause of acquired heart disease among children in developed countries. We hypothesized that the actin related protein 2/3 complex, subunit 2, 34 kDa (ARPC2) gene may be related to the development of KD. In this study, the associations between single nucleotide polymorphisms (SNPs) of ARPC2 and KD were investigated in 111 KD patients and 429 healthy controls. Two promoter (rs6720105, −099G/A and rs6720449, −839G/A) and 5 intronic SNPs (rs12992937, rs10932765, rs10169718, rs6436047, and rs13430006) were selected, and genotypes of each SNP were analyzed using Affymetrix targeted genotyping chip. The genetic data of 7 SNPs were evaluated by SNPStats, SNPAnalyzer, Haploview, and Helixtree programs. Two promoter SNPs (rs6720105 and rs6720449) were weakly associated with KD. The SNP rs6720105 showed a statistical difference between KD and controls in the codominant model (OR=1.45, 95% CI=1.00∼2.10, p=0.042). The SNP rs6720449 also showed differences between KD and controls in the codominant (OR=1.47, 95% CI=1.02∼2.14, p=0.036) and dominant models (OR=1.55, 95% CI=1.01∼2.40, p=0.045), respectively. In the analysis of haplotypes, a haplotype (AATTAAG) was weakly associated with KD (frequency=0.249, chi square=3.867, p=0.049). The results suggest that ARPC2 may be associated with the development of KD in Korean children. (Korean J Str Res 2010;18:389∼394)

• Keywords: Kawasaki disease, ARPC2, Single nucleotide polymorphism, Haplotype