Lack of Association between ORAI1/CRACM1 Gene Polymorphisms and Kawasaki Disease in the Taiwanese Children
Lack of Association between ORAI1/CRACM1 Gene Polymorphisms and Kawasaki Disease in the Taiwanese Children
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DOI：
10.1007/s10875-011-9524-8
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发表时间：
2011-08-01
影响因子：
9.1
通讯作者：
Chang, Wei-Chiao
中科院分区：
文献类型：
--
作者：
Kuo, Ho-Chang;Lin, Ying-Jui;Chang, Wei-Chiao
川崎是一种病因不明的全身性血管炎。先前的研究表明，肌醇1，4，5-三磷酸3-激酶C（ITPKC）基因多态性与KD的易感性有关。奥赖（也称为CRACM 1）是参与调节免疫和炎症反应的钙库操纵的钙通道的组分之一。本研究旨在研究ITPKC下游基因ORAI 1/CRACM 1的多态性是否与KD易感性和临床结局相关。对341例KD患者和715例对照者进行了研究，以确定ORAI 1/CRACM 1基因的5个标签单核苷酸多态性（tSNPs），采用TaqMan等位基因识别试验检测5个ORAI 1/CRACM 1 tSNPs（rs 12313273，rs6486795，rs7135617，rs 12320939，和rs712853）的基因型和等位基因频率，在KD患者和对照组中未观察到显著相关性。在KD患者中，未观察到ORAI 1/CRACM 1多态性与冠状动脉病变（CAL）形成或静脉注射免疫球蛋白（IVIG）治疗反应之间存在显著相关性。单倍型分析的结果并不显著，本研究首次显示台湾人群中，ORAI 1/CRACM 1多态性与KD易感性、CAL形成或IVIG治疗反应无关。
Kawasaki disease (KD) is characterized by systemic vasculitis of an unknown cause. A previous study has indicated that a polymorphism of the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene is involved in the susceptibility to KD. ORAI (also known as CRACM1) is one of the components of store-operated calcium channels involved in regulating immune and inflammatory reactions. This study was conducted to investigate if polymorphisms in ORAI1/CRACM1, a gene downstream from ITPKC, are associated with KD susceptibility and clinical outcomes.A total of 1,056 subjects (341 KD patients and 715 controls) were investigated to identify five tagging single nucleotide polymorphisms (tSNPs) in ORAI1/CRACM1 (rs12313273, rs6486795, rs7135617, rs12320939, and rs712853) by using the TaqMan Allelic Discrimination assay.No significant associations between genotype and allele frequency of the five ORAI1/CRACM1 tSNPs were observed in the KD patients and controls. In KD patients, no significant associations between ORAI1/CRACM1 polymorphisms and coronary artery lesion (CAL) formation or intravenous immunoglobulin (IVIG) treatment response were observed. The results from haplotype analysis were insignificant.This study showed for the first time that ORAI1/CRACM1 polymorphisms are not associated with KD susceptibility, CAL formation, or IVIG treatment response in the Taiwanese population.