Asan Institute for Life Sciences, University of Ulsan College of Medicine, 388-1 Pungnap-2-Dong, Songpa-Gu, Seoul, Korea.
Hum Genet. 2011 May;129(5):487-95. doi: 10.1007/s00439-010-0937-x. Epub 2011 Jan 9.
Kawasaki disease (KD) is an acute self-limited vasculitis of infants and children that manifests as fever and signs of mucocutaneous inflammation. Coronary artery aneurysms develop in approximately 15-25% of untreated children. Although the etiology of KD is largely unknown, epidemiologic data suggest the importance of genetic factors in the susceptibility to KD. In order to identify genetic variants that influence KD susceptibility, we performed a genome-wide association study (GWAS) using Affymetrix SNP array 6.0 in 186 Korean KD patients and 600 healthy controls; 18 and 26 genomic regions with one or more sequence variants were associated with KD and KD with coronary artery lesions (CALs), respectively (p < 1 × 10(-5)). Of these, one locus on chromosome 1p31 (rs527409) was replicated in 266 children with KD and 600 normal controls (odds ratio [OR] = 2.90, 95% confidence interval [CI] = 1.85-4.54, P (combined) = 1.46 × 10(-6)); and a PELI1 locus on chromosome 2p13.3 (rs7604693) was replicated in 86 KD patients with CALs and 600 controls (OR = 2.70, 95% CI = 1.77-4.12, P (combined) = 2.00 × 10(-6)). These results implicate a locus in the 1p31 region and the PELI1 gene locus in the 2p13.3 region as susceptibility loci for KD and CALs, respectively.
川崎病（KD）是一种发生于婴幼儿的急性自限性血管炎，表现为发热和黏膜皮肤炎症的征象。未经治疗的患儿中约有 15-25%会发生冠状动脉瘤。尽管 KD 的病因在很大程度上尚不清楚，但流行病学数据表明遗传因素在 KD 的易感性中具有重要作用。为了确定影响 KD 易感性的遗传变异，我们使用 Affymetrix SNP 阵列 6.0 在 186 例韩国 KD 患者和 600 例健康对照者中进行了全基因组关联研究（GWAS）；分别有 18 个和 26 个基因组区域存在一个或多个序列变异与 KD 和伴有冠状动脉损伤（CALs）的 KD 相关（p<1×10(-5)）。其中，1 号染色体 1p31 上的一个位点（rs527409）在 266 例 KD 患儿和 600 例正常对照者中得到了复制（比值比[OR] = 2.90，95%置信区间[CI] = 1.85-4.54，P（合并）= 1.46×10(-6)）；2 号染色体 2p13.3 上的一个 PELI1 基因座（rs7604693）在 86 例伴有 CALs 的 KD 患者和 600 例对照者中得到了复制（OR = 2.70，95%CI = 1.77-4.12，P（合并）= 2.00×10(-6)）。这些结果提示 1p31 区域的一个基因座和 2p13.3 区域的 PELI1 基因座分别为 KD 和 CALs 的易感基因座。
