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ORAI1/CRACM1 基因多态性与台湾地区儿童川崎病无关。

Lack of association between ORAI1/CRACM1 gene polymorphisms and Kawasaki disease in the Taiwanese children.

机构信息

Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Kaohsiung, Taiwan.

出版信息

J Clin Immunol. 2011 Aug;31(4):650-5. doi: 10.1007/s10875-011-9524-8. Epub 2011 Apr 13.

DOI:10.1007/s10875-011-9524-8
PMID:21487896
Abstract

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.

摘要

目的

川崎病(KD)的特征为病因不明的全身血管炎。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症反应的组成部分之一的储存操纵钙通道。本研究旨在调查 ITPKC 下游基因 ORAI1/CRACM1 的多态性是否与 KD 易感性和临床结局相关。

材料和方法

共调查了 1056 名受试者(341 名 KD 患者和 715 名对照),通过 TaqMan 等位基因鉴别检测鉴定 ORAI1/CRACM1(rs12313273、rs6486795、rs7135617、rs12320939 和 rs712853)中的五个标记单核苷酸多态性(tSNP)。

结果

在 KD 患者和对照组中,未观察到五个 ORAI1/CRACM1 tSNP 的基因型和等位基因频率之间存在显著关联。在 KD 患者中,未观察到 ORAI1/CRACM1 多态性与冠状动脉病变(CAL)形成或静脉注射免疫球蛋白(IVIG)治疗反应之间存在显著关联。单倍型分析的结果无统计学意义。

结论

本研究首次表明,在台湾人群中,ORAI1/CRACM1 多态性与 KD 易感性、CAL 形成或 IVIG 治疗反应无关。

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J Hum Genet. 2011 Feb;56(2):161-5. doi: 10.1038/jhg.2010.154. Epub 2010 Dec 16.
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Clinical Implication of the C Allele of the ITPKC Gene SNP rs28493229 in Kawasaki Disease: Association With Disease Susceptibility and BCG Scar Reactivation.
Medicine (Baltimore). 2016 Apr;95(17):e3501. doi: 10.1097/MD.0000000000003501.
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