Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.
PLoS One. 2013 Jul 24;8(7):e69685. doi: 10.1371/journal.pone.0069685. Print 2013.
Single-nucleotide polymorphisms (SNPs) in inositol 1,4,5-trisphosphate 3-kinase C (ITPKC, rs28493229) and caspase-3 (CASP3, rs113420705) are associated with susceptibility to KD in Japanese and Taiwanese populations. This study was conducted to investigate the involvement of these 2 SNPs in the risk for intravenous immunoglobulin (IVIG) resistance and coronary artery lesion (CAL) in Taiwanese population. A total of 340 KD patients were subjected to assess by the identification of 2-locus genes model. A combinatorial association between ITPKC (rs28493229) and CASP3 (rs113420705) was found in CAL formation (P = 0.0227, OR: 3.06). KD patients with high-risk genotype had a trend of overrepresentation in IVIG resistance compared with individual SNPs. Our findings suggest the existence of genetic factors affecting patients' risk for CAL formation and IVIG responsiveness in a Taiwanese population.
单核苷酸多态性（SNPs）在肌醇 1,4,5-三磷酸 3-激酶 C（ITPKC，rs28493229）和半胱天冬酶-3（CASP3，rs113420705）中与日本和台湾地区 KD 的易感性相关。本研究旨在探讨这 2 个 SNP 与台湾人群静脉注射免疫球蛋白（IVIG）耐药和冠状动脉病变（CAL）风险的关系。对 340 例 KD 患者进行了 2 个基因座模型的鉴定。发现 ITPKC（rs28493229）和 CASP3（rs113420705）之间存在组合关联，与 CAL 形成有关（P=0.0227，OR：3.06）。与单个 SNP 相比，具有高风险基因型的 KD 患者在 IVIG 耐药方面有过度表达的趋势。我们的研究结果表明，在台湾人群中存在影响患者 CAL 形成和 IVIG 反应性风险的遗传因素。
