چکیده : 

Background: Kawasaki disease (KD) is a pediatric systemic vasculitis, for which both genetic

and environmental factors are suspected. HLA gene clusters within the major histocompatibility

complex (MHC) region at chromosome 6p21.3 have been recently linked to KD.

However, little was known about the roles of non-MHC genes during KD development. This

study examines the association of psoriasis susceptibility 1 (PSORS1) genetic variants at the

MHC region with KD development.

Methods: A total of 93 KD patients and 680 healthy children were enrolled. Three unique

single nucleotide polymorphisms (SNPs) that cover PSORS1C1, PSORS1C2, and CDSN genes

were genotyped by Taqman genotyping assay. The frequency of genetic variants was

assessed by c2 analysis.

Results: Polymorphism rs1064190 located at the promoter region of PSORS1C1 is found to be

associated with KD development ( p ¼ 0.026) with higher T/T genotype frequency

( p ¼ 0.006) the T-A-T haplotype is more frequent in KD patients than normal controls

( p ¼ 0.033). In addition, T allele at rs1064190 shows a protective allele for coronary artery

aneurysm (CAA) formation in KD patients ( p ¼ 0.015). The plasma activity of GOT/GPT, the

indicators for KD heart damage, are significantly lower in patients with T/T genotype than

in those with non-T/T genotype.