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首页> 外文期刊>Journal of Clinical Immunology >Lack of association between ORAI1/CRACM1 gene polymorphisms and Kawasaki disease in the Taiwanese children.
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Lack of association between ORAI1/CRACM1 gene polymorphisms and Kawasaki disease in the Taiwanese children.

机译:台湾儿童中的ORAI1 / CRACM1基因多态性与川崎病之间缺乏关联。

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OBJECTIVE: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
机译:目的:川崎病(KD)的特征在于原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)基因的多态性与KD的易感性有关。 ORAI(也称为CRACM1)是参与调节免疫和炎性反应的储库钙通道的组成部分之一。进行这项研究的目的是研究ORIT1 / CRACM1(ITPKC下游的一个基因)中的多态性是否与KD易感性和临床结果相关。材料与方法:共研究了1,056名受试者(341名KD患者和715名对照),以通过使用TaqMan等位基因鉴定ORAI1 / CRACM1(rs12313273,rs6486795,rs7135617,rs12320939和rs712853)中的五个标记单核苷酸多态性(tSNP)。鉴别分析。结果:在KD患者和对照组中,未发现5个ORAI1 / CRACM1 tSNP的基因型与等位基因频率之间有显着关联。在KD患者中,未观察到ORAI1 / CRACM1多态性与冠状动脉病变(CAL)形成或静脉内免疫球蛋白(IVIG)治疗反应之间存在显着关联。单倍型分析的结果微不足道。结论:这项研究首次表明,ORAI1 / CRACM1基因多态性与台湾人群的KD易感性,CAL形成或IVIG治疗反应无​​关。

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