GRIN3A基因多态性与川崎病的相关性分析

摘要

ObjectiveTo investigate the association between nucleotide polymorphisms ofGRIN3A gene and clinical characteristic of Kawasaki disease (KD) in children in Han population in central Chinese.MethodsA 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.ResultsThe 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 signiifcantly associated with oral mucosa lesions and coronary artery lesion (P<0.05), but not associated with conjuncti-val 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).ConclusionThe ploymorphism of SNP loci ofGRIN3A gene (rs7849782) was associated with the susceptibility of KD. The C allele was the risk factors. The poly-morphism of SNP was associated with oral mucosa lesions and coronary artery lesion, and may affect the levels of ESR and CRP.%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。