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

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