MPO基因多态性与川崎病及其临床表型的相关性分析

目的探讨我国中部汉族人群中MPO基因的单核苷酸多态性(SNP)位点(rs2333227,—643G/A)多态性与川崎病(KD)及其临床特点的相关性。方法采用病例对照研究方法,选取237例典型KD患儿和249例正常儿童作为研究对象。利用PCR-RFLP的方法测定SNP位点多态性分布;并收集KD患儿临床资料。结果 KD患儿SNP位点(rs2333227)的基因型(GG、GA、AA)频率与正常儿童相比差异有统计学意义(P=0.039),且等位基因频率差异亦存在统计学意义(P=0.012),G等位基因为风险因子。该SNP位点GG基因型的患儿手足水肿的比例高于其他基因型的患儿,差异具有统计学意义(P=0.029)并与腹腔积液的特点相关(P=0.028);该SNP位点多态性与结膜充血、皮疹、冠状动脉损伤肝脏肿大、脾脏肿大、小叶性肺炎等影像学特点无关(P0.05)。结论 MPO基因SNP位点(rs2333227)与KD的易感性相关,G等位基因为风险因子;且该SNP位点多态性可能与部分临床特点相关。

Association between MPO gene polymorphism and clinical characteristics in children with Kawasaki disease

Objective To investigate the association between MPO gene single nucleotide polymorphisms (SNP) loci (rs2333227,-643G/A) and clinical characteristics in Kawasaki disease (KD) in Han population in central China. Methods A case-control study was performed. Two hundred and thirty-seven children with KD and 249 normal children were recruited. The polymorphism distribution of SNP was detected using PCR-RFLP. The clinical data of children with KD were collected. Results The frequency of SNP loci (rs2333227) genotypes (GG, GA, AA) was signiifcantly different between children with KD and normal children (P=0.039), the allele frequency was also signiifcantly different between two groups (P=0.012), and the G allele was the risk factor. Compared with other genotypes, KD children with GG genotype had higher frequency in hand-foot edema (P=0.029). The SNP polymorphism was also associated with peritoneal effusion (P=0.028), however this SNP polymorphism was not associated with conjunctival hyperemia, oral mucosa lesions, and coronary artery lesion (P>0.05), also was not associated to imaging characteristics of hepatomegaly, splenomegaly, and lobular pneumonia (P>0.05). Conclusion The SNP loci (rs2333227) in MPO gene was associated with KD susceptibility, the G allele was a risk factor, and the SNP polymorphisms is associated with some clinical characteristic.