中文摘要：

目的 探讨CD2相关蛋白（CD2AP）基因启动子区465G/T多态性与肾病综合征（NS）患儿发病的关系。方法 本研究将研究对象分为NS组88例和健康对照组86例。应用PCR结合测序法,对88例NS组患儿和86例健康对照组儿童CD2AP基因启动子区465G/T多态性进行检测,计算其基因型和等位基因频率。组间比较采用χ2检验。相关疾病的基因型风险率以比值比（OR）表示,95%可信区间（95%CI）计算采用Miettinen法。结果 NS组各基因型分布频率为GG 59.1%、GT 31.8%、TT 9.1%，等位基因频率G为68.9%、T为31.1%。健康对照组各基因型分布频率为GG 80.2%、GT 17.4%,TT 2.4%，等位基因频率G为83.2%、T为16.8%。NS组突变基因型频率（40.9%）明显高于健康对照组（19.8%）（χ2=9.339,P=0.002）,且基因突变型患病的风险是健康对照组的2.76倍（OR=2.76,95%CI：1.421～5.336）。激素耐药NS组患儿突变基因型频率（71.4%）明显高于激素敏感NS组（31.3%）（χ2=10.617,P=0.001）,且携带T等位基因的个体发生NS激素耐药的风险增加至4.42倍（OR=4.42,95%CI：1.780～10.943）。结论 儿童NS的易感性及对激素治疗是否敏感，可能与CD2AP基因启动子区-465G/T的多态性有关。

英文摘要：

Objective To investigate the relationship between promoter polymorphism -465G/T of CD2 associated protein （CD2AP） and pathogeny of nephrotic syndrome （NS） in children. Methods The children were divided into the NS group and the normal control group. The CD2AP gene promoter -465G/T polymorphism was determined by PCR and sequencing in 88 patients with NS and 86 healthy children. Odds ratios （OR） were used to evaluate the association between the polymorphisms and NS. Ninety -five percent confidence interval （95% CI） was obtained with Miettinen method. Results The frequencies of CD2AP gene promoter GG, GT and TY genotypes were 59.1% ,31.8% and 9.1% ,respectively in the NS group, and 80.2% , 17.4% and 2.4% , respectively in the normal control group. The frequencies of G and T allele were 68.9% and 31.1% ,respectively in NS group, and 83.2%, 16.8% ,respectively in the normal control group. There were marked differences in the frequencies of genotypes （GT and TI＇） for CD2AP gene promoter in the NS group and the normal control group （40.9% and 19.8% ,X^2 = 9. 339 ,P =0. 002））. The individuals with GT and IT genotypes were 2.76 times susceptible to NS in the NS group than that in the normal control group（ OR = 2.76,95% CI： 1. 421 - 5. 336 ）. The frequencies of genotypes （ GT and IT） for CD2AP gene promoter in steroid - resistant NS patients were significantly higher than that in steroid - sensitive NS patients （71.4% and 31.3% ,X^2 = 10. 617 ,P = 0. 001）. The individuals with T allele were 4.42 times susceptible to steroid - resistant NS patients than controls （ OR = 4.42,95% CI： 1. 780 - 10. 943 ）. Conclusion The CD2 AP gene promoter - 465G/T polymorphism is significantly implicated in the susceptibility to NS and steroid resistance in children.