内皮细胞型一氧化氮合酶基因多态性与川崎病冠状动脉损伤易感性的相关性  

Relationship between Endothelial Nitric Oxide Synthase Gene Polymorphisms and Susceptivity of Coronary Artery Lesions in Children with Kawasaki Disease

作　　者：王凤鸣[1] 李军[1] 赵乃铮[1] 秦玉明[1] 朱善良[1] 

机构地区：[1]南京医科大学附属南京儿童医院心内科,南京210008

出　　处：《实用儿科临床杂志》2009年第13期990-992,共3页Journal of Applied Clinical Pediatrics

基　　金：南京市医学重点科技发展项目资助(200505002)

摘　　要：目的探讨内皮细胞型一氧化氮合酶(eNOS)基因第4内含子a/b和第7外显子G894T多态性与儿童川崎病(KD)发病及并冠状动脉损伤(CAL)的相关性。方法选择住院KD患儿69例(KD组),其中CAL39例(CAL组),无冠状动脉损伤(NCA)30例(NCA组)。同期选择健康体检儿童90例作为健康对照组。采用PCR方法和聚合酶链反应限制性片段长度多态性(PCR-RFLP)技术检测各组基因型与等位基因频率。结果KD组和健康对照组eNOS基因内含子4基因型aa加ab:bb分布分别为0.30:0.70和0.32:0.68;等位基因a:b频率分别为0.18:0.82和0.17:0.83,二组基因型及等位基因频率比较均无显著性差异(Pa>0.05),KDCAL组与NCA组基因型aa加ab:bb分布分别为0.33:0.67和0.30:0.70;二种等位基因a:b频率分别为0.15:0.85和0.19:0.81,二组基因型及等位基因频率比较均无显著性差异(Pa>0.05)。KD组eNOS基因第7外显子G894T基因型GT:GG频率显著高于健康对照组(0.26:0.74vs0.13:0.87P<0.05),KD组T等位基因频率较健康对照组高,但无统计学意义(0.19vs0.17P>0.05),KDCAL组和NCA组GT基因型及T等位基因频率比较差异均无统计学意义(0.26vs0.20,0.83vs0.79Pa>0.05)。危险度分析结果为GT基因型的个体患KD的风险是健康对照组的1.96倍,其差异有统计学意义(OR=1.96,95%CI1.086～4.481P=0.048);eNOS基因4a/b各基因型与KD发病无明显相关性(OR=0.92,95%CI0.468～1.811P=0.864)。结论eNOS基因第7外显子G894T多态性的GT基因型可能与KD发病有关,第4内含子a/b及第7外显子G894T多态性与KDCAL可能无关。Objective To explore the effects of polymorphisms of endothelial nitric oxide synthase （eNOS） gene,4a/b（A：B） located in intron 4 and G894T （GT） located in extron 7,on the susceptivity of coronary artery lesion （CAL）in Kawasaki disease （KD）.Methods Sixty-nine children with KD,including 39 children with CAL （CAL group） and 30 without CAL（NCA group）,and 90 healthy children were investigated for genotype.Genotype and allele frequencies were determined by polymerase chain reaction and restriction fragment length polymorphism analysis （PCR-RFLP）.Results Genotype and allele frequencies of the ab polymorphism in KD group （0.300.70 for aa plus abbb,0.180.82 for ab） were similar to those in healthy control group （0.320.68 for aa plus abbb,0.170.83 for ab）.Moreover,no differences in genotype and allele frequencies of the a：b polymorphism were observed between KD group and healthy control group（Pa〉0.05）.However,genotype and allele frequencies of the GT polymorphism in KD group （0.260.74 for GTGG） were diffe-rent from those in healthy control group （0.130.87 for GTGG）（P〈0.05）.No differences in genotype and allele frequencies of the GT polymorphism were observed between children in KD group with and without CAL（0.26 vs 0.20,0.83 vs 0.79 Pa〉0.05）.The GT genotype carriers were 1.96-fold increased risk of developing KD compared with healthy control group（OR=1.96,95%CI 1.086-4.481 P=0.048）.aa plus ab genotype carriers were not at increased risk of developing KD compared with healthy control group （OR=0.92,95%CI 0.468-1.811 P=0.864）.Conclusions The GT genotype of G894T polymorphisms at extron 7 of the eNOS gene may contribute to the presence of KD,but eNOS gene polymorphism （4a/b and G894T） may not be associated with the development of CAL in KD children in Chinese population.

关 键 词：皮肤黏膜淋巴结综合征 一氧化氮合酶 多态现象 儿童 

分 类 号：R725.4[医药卫生—儿科]