临床儿科杂志 ›› 2015, Vol. 33 ›› Issue (7): 605-.doi: 10.3969 j.issn.1000-3606.2015.07.002

• 心血管疾病专栏 • 上一篇    下一篇

GRIN3A 基因多态性与川崎病的相关性分析

金向群,熊志,祝莹,童丽娜,王立琼   

  1. 咸宁市中心医院儿内科( 湖北咸宁 437100)
  • 收稿日期:2015-07-15 出版日期:2015-07-15 发布日期:2015-07-15

Association between polymorphism of GRIN3A gene and clinical characteristic in children with Kawasaki disease

JIN Xiangqun, XIONG Zhi, ZHU Ying, TONG Lina, WANG Liqiong   

  1. Department of Pediatrics, Xianning Central Hospital, Xianning 437100, Hubei, China
  • Received:2015-07-15 Online:2015-07-15 Published:2015-07-15

摘要: 目的 探讨中国中部地区汉族人群中GRIN3A基因的单核苷酸多态性(SNP)位点rs7849782多态性与川崎病(KD)临床特点的相关性。方法 采取病例对照研究方法,分别选取191例KD患儿和217例同时期体检正常儿童作为研究对象。利用PCR-RFLP方法测定SNP位点多态性分布;超声心动图检测动脉损伤。结果 KD患儿与对照儿童SNP位点(rs7849782)三种基因型(CC、CG、GG)的分布差异有统计学意义(P=0.034),且C等位基因频率的差异亦存在统计学意义(P=0.007),C为风险因子(OR=1.46,95%CI:1.10~1.92)。KD患儿中该SNP位点的多态性与口腔黏膜病变以及冠状动脉损伤显著相关(P<0.05),但与结膜充血、皮疹、手足水肿以及淋巴结肿大、触痛等无相关性(P>0.05);该位点的多态性与患者的血沉以及C反应蛋白(CRP)水平相关(P<0.05)。结论 GRIN3A基因SNP位点(rs7849782)多态性与KD的易感性相关,C等位基因为风险因子;且该SNP位点可能与KD患儿的口腔黏膜以及冠状动脉损伤等特征相关,并可能影响血沉以及CRP水平。

Abstract:  Objective To investigate the association between nucleotide polymorphisms of GRIN3A gene and clinical characteristic of Kawasaki disease (KD) in children in Han population in central Chinese. Methods A case-control study was performed. A total of 191 children with KD were recruited and 217 healthy children were served as controls. The distribution of SNP was determined by PCR-RFLP. Arterial lesions were detected by echocardiographic. Results The distribution of three genotypes (CC, CG, GG) in SNP (rs7849782) was statistically difference between KD and control groups (P=0.034), and C allele was associated with KD susceptibility (OR=1.46, 95% CI: 1.10 - 1.92, P=0.007). In children with KD, the polymorphism of SNP loci was significantly associated with oral mucosa lesions and coronary artery lesion (P<0.05), but not associated with conjunctival hyperemia, hand-foot edema, rash, and lymphadenopathy (P>0.05). The polymorphism of SNP loci was also associated with the levels of erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) (P<0.05). Conclusion The ploymorphism of SNP loci of GRIN3A gene (rs7849782) was associated with the susceptibility of KD. The C allele was the risk factors. The polymorphism of SNP was associated with oral mucosa lesions and coronary artery lesion, and may affect the levels of ESR and CRP.