Abstract: AbstractObjectiveTo investigate the genetic association of the PAI1 promoter 4G/5G polymorphism in juvenile Hans nationality patients with KD. MethodsFrom 2001 to 2003 4G/5G polymorphism of PAI1 gene promoter from 126 children with KD was determined by allele specific polymerase chain reaction(ASPCR),and 120 agematched normal children from the Han nationality were used as control.The plasma PAI1 activity was assayed by ELISA.All patients were performed Doppler echocardiography examination in order to differentiate coronary artery lesion(CAL). ResultsThe plasma PAI1 activity level in two KD groups were significantly higher than those in normal controls group(P<005);the plasma PAI1 activity level in the KD I group(with CAL) was significantly higher than those in the KD II group(without CAL)( P<001).PAI1 level in 4G homozygous genotype was significantly higher than 4G/5G heterozygous genotype and 5G homozygous genotype in two KD groups (P<005).The 4G/4G genotype frequency in KD I group was significantly higher than those in KD II group(P<005) and normal controls group(P<005).The 4G/4G homozygous genotype of PAI1 was significantly associated with CAL caused by KD(OR=280,95%confidence interval 125~629,P<005). ConclusionThe 4G/5G polymorphism of PAI1 gene promoter might be related to the coronary artery complication of KD and 4G/4G homozygous genotype might be regarded as a genetic marker of risk factor for CAL in KD.

Key words: Mucocutaneous lymph node syndrome, Gene polymorphism

摘要： 目的探讨纤溶酶原激活物抑制物1(PAI1)基因启动子区4G/5G多态性与中国汉族儿童川崎病(KD)的关系。 方法对2001—2003在深圳市儿童医院就诊的KD患儿126例，用等位基因特异性聚合酶链反应(ASPCR)检测126例患儿和120名健康儿童PAI1基因启动子区4G/5G多态性；用发色底物法检测各组PAI1血浆活性。 结果(1)KDⅠ组(合并冠状动脉损伤)和KDⅡ组(无冠状动脉损伤)患儿PAI1血浆活性均高于健康对照组，差异有显著性(P均<005)。KDⅠ组PAI1血浆活性高于KDⅡ组，差异有显著性(t=978，P<005)。(2)KDⅠ组和KDⅡ组中4G/4G基因型PAI1血浆活性明显高于4G/5G基因型和5G/5G基因型，差异有显著性(均P<005)。(3)KDⅠ组4G/4G基因型频率显著高于KDⅡ组(P<005)和健康对照组(P<005)。与非4G/4G纯合子基因型相比，4G/4G纯合子基因型对KD冠状动脉并发症的比值比(OR)为280(95%置信区间：125~629，P<005)。 结论PAI1基因启动子区4G/5G多态性与KD冠状动脉损伤密切相关，PAI1基因启动子区4G/4G基因型可作为KD冠状动脉损伤高危人群的基因标志。

关键词: 纤溶酶原激活物抑制物1, 皮肤黏膜淋巴结综合征, 基因多态性