在川崎病静脉注射免疫球蛋白无反应性和冠状动脉病变的 ITPCK 和 CASP3 双基因座分析中进行的复制研究。
A replication study for association of ITPKC and CASP3 two-locus analysis in IVIG unresponsiveness and coronary artery lesion in Kawasaki disease.
机构信息
Department of Pediatrics, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.
出版信息
PLoS One. 2013 Jul 24;8(7):e69685. doi: 10.1371/journal.pone.0069685. Print 2013.
Abstract
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.
摘要
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。
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