原发性肾病综合征与细胞毒性T淋巴细胞相关抗原-4基因启动子区-318位点基因多态性的相关性

Polymorphism at Position - 318 in Promoter of Cytotoxic T Lymphocyte Associated Antigen 4 Gene in Children with Primary Nephrotic Syndrome

目的探讨细胞毒性T淋巴细胞相关抗原-4(CTLA-4)与糖皮质激素(GC)耐药型原发性肾病综合征(PNS)中系膜增生性肾小球肾炎(MsPGN)的相关性。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测36例PNS-MsPGN患儿和30例正常对照儿童CTLA-4基因启动子区-318位点基因型。结果肾病组CTLA-4基因启动子区-318位点基因型频率分别为CC型38.9%、TC型61.1%和TT型0,等位基因频率为C等位基因69.4%、T等位基因30.6%。肾病组各基因型及等位基因频率与对照组相比均无显著差异(P均>0.03)。结论CTLA-4基因启动子区-318位点基因C/T双态性同GC耐药型PNS-MsPGN患儿无相关性,提示该基点基因多态性可能不参与GC耐药型PNS-MsPGN的发病机制及耐药机制。

Objective To investigate the correlation between cytotoxic T lymphocyte associated antigen 4（CTLA- 4） and primary nephrotic sysdrome（PNS） with the pathologic type of mesangial proliferative glomerulonephritis（MsPGN） of glucocorticoid（GC） resistance. Methods The polymerase chain reaction- restriction fragment length polymorphism（PCR- RFLP） analysis was used to investigate the genotype of position - 318 promoter of CTLA - 4 gene of 36 patient children and 30 healthy controls. Results The frequences of genotypes at position - 318 promoter of CTLA - 4 gene in patients were 38.9% for CC,61.1% for TC and 0% for TT. The frequences of alleles at this position were 69.4% for C allele and 30.6% for T allele. The frequences of genotypes and alleles in children were not significantly different from those in controls. Conclusion CTLA- 4 promoter （ - 318）C/T dimorphism was not associated with PNS- MsPGN of GC resistance, which hinted that the polymorphism may be not inlolved in pathogenensis of PNS - MsPGN and the mechanism of GC resistance.