TRPC7 Gene Polymorphism as a Pathogenesis of Kawasaki Disease in Korean Population
TRPC7(transient receptor potential cation channels, subfamily C, member 7) are nonselective cation channels activated through the phospholipase C signaling pathway and play important roles in Ca2+ signaling pathway. TRPC family are known to abundantly expressed in the heart but TRPC7 is found only in vascular endothelial cells. We hypothesized single nucleotide polymorphisms(SNPs) of TRPC7 gene may be correlated with the pathogenesis of Kawasaki disease(KD) and coronary arterial lesion. From 2003 to 2005, 113 who have diagnosed as KD a study group and 500 healthy adults as a control group were selected. Genomic DNA was prepared and the genotypes were determined by direct sequencing and the sequence data were analyzed. 11 candidate genes were selected and multiple logistic regression models were used(p <0.05). Male to female ratio was 2.44:1 in KD group, 0.77:1 in control group. Mean age was 32 months in KD group, 44.8 years in control group. In KD group, 83(73.4%) patients showed normal coronary arteries and 30(26.6%) patients showed coronary arterial dilatation. Coronary artery aneurysm was found in 7(6.2%) patients out of 30. SNPs of 3 candidate genes; rs2546651(p=0.016), rs1477322(p=0.0014), rs1909544 (p=0.047) of TRPC7 were statistically significant in patients with KD as compared with normal controls. SNPs of TRPC7 genes were not statistically significant in coronary arterial lesion group compared with normal coronary artery group. In conclusions, SNPs of TRPC7 genes may have a pathogenetic role of KD. To clarify the mechanism for TRPC7 SNPs to cause KD, further studies may required.