天津医药

天津医药 ›› 2018, Vol. 46 ›› Issue (11): 1181-1185.doi: 10.11958/20180803

• 临床研究 • 上一篇    下一篇

ORAI1基因rs3741596单核苷酸多态性与川崎病的关系

巴爽1 ， 张宏艳2△   

  1. 1天津市儿童医院急诊科 （邮编300074）； 2泰达国际心血管病医院儿内科
  • 收稿日期:2018-05-21 修回日期:2018-08-12 出版日期:2018-11-15 发布日期:2018-11-20
  • 通讯作者: 张宏艳 E-mail:etzhy2014@163.com
  • 基金资助:
    天津市应用基础与前沿技术研究计划

Association study of ORAI1 gene rs3741596 single nucleotide polymorphism and Kawasaki disease

BA Shuang1 , ZHANG Hong-yan2△   

  1. 1 Department of Emergency, Tianjin Children’ s Hospital, Tianjin 300074, China; 2 Department of Pediatrics, TEDA International Cardiovascular Hospital
  • Received:2018-05-21 Revised:2018-08-12 Published:2018-11-15 Online:2018-11-20

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摘要： 摘要： 目的 探讨钙释放激活钙调节蛋白1 （CRACM1/ORAI1） 基因rs3741596位点单核苷酸多态性 （SNP） 与川崎病 （KD） 易感性及KD并发冠状动脉病变 （CALs） 是否相关。方法 将确诊的46例KD患儿 （病例组） 和25例健康儿童（对照组） 纳入本研究， 并根据是否出现CALs将病例组分为CAL组 （20例） 和无CAL （NCAL） 组 （26例）。应用聚合酶链反应 （PCR） 技术联合基因直接测序技术检测所有研究对象ORAI1基因rs3741596位点SNP， 并进行统计学分析。结果 所有研究对象均检测到ORAI1基因rs3741596位点SNP， 其基因型分布及等位基因频率在病例组及对照组间差异无统计学意义 （χ2 分别为0.712和0.499， 均P＞0.05）， 而在CAL组和NCAL组间差异有统计学意义 （χ2 分别为 6.524 和 6.891， 均 P＜0.05）； 携带 G 等位基因使 KD 患儿并发生 CALs 的危险性增加（OR=5.444， 95%CI： 1.386~ 21.380）。结论 ORAI1基因rs3741596位点SNP可能与KD易感性无相关性， 但与KD并发CALs易感性相关。

关键词: 多态性, 单核苷酸, 黏膜皮肤淋巴结综合征, 儿童, ORAI1基因, 冠状动脉病变

Abstract: Abstract: Objective To investigate the relationship between single nucleotide polymorphism (SNP) at the calcium release-activated calcium modulator 1 (CRACM1/ORAI1) gene rs3741596 and the susceptibility of Kawasaki disease (KD), and KD merged coronary artery lesions (CALs). Methods Forty-six children diagnosed as KD and twenty-five health children were enrolled in this study. All subjects in case group were divided into CAL group and NCAL group according to the presence of CALs. Polymerase chain reaction (PCR) and direct sequencing were applied to detect the SNPs of ORAI1 gene rs3741596 in all subjects, and then further statistical analysis was conducted. Results ORAI1 gene rs3741596 SNP was detected in all subjects. There were no significant differences in the genotype distribution and allele frequency between the KD group and health control group (χ2 =0.712 and 0.499, P＞0.05). While, there were significant differences in the genotype distribution and allele frequency between the CAL group and NCAL group (χ2 =6.524 and 6.891， P＜0.05). The KD patients with G allele increased the risk of CALs (OR=5.444， 95%CI： 1.386-21.380). Conclusion The ORAI1 gene rs3741596 SNP may have no correlation with KD susceptibility, while it is related with the susceptibility to CALs in KD patients.

Key words:  polymorphism, single nucleotide, mucocutaneous lymph node syndrome, child, ORAI1 gene, coronary artery lesions (CALs)